From: Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report
Softwares/Algorithms | Score | Deleterious/Pathogenicity threshold |
---|---|---|
Clin Predict | 0.99 | >â0.5 |
REVEL | 0.92 | >â0.5 |
M-CAP | 0.39 | >â0.11 |
ReVe | 0.99 | >â0.66 |
VEST3 | 0.97 | >â0.61 |
FATHMM | â4.00 | â¤âââ0.92 |
SIFT | 0.00 | â¤0.01 |
PolyPhen2-HDIV | 1.00 | >â0.93 |
PolyPhen2-HVAR | 0.99 | >â0.62 |
GERP++ | 5.89 | >â3.86 |
CADD | 6.33 | >â23.95 |