Variant | Nucleotide change | Protein change | aFunctional prediction by SIFT database | bFunctional prediction by PolyPhen2 database | cConservative alignment between species using HomoloGene database |
---|---|---|---|---|---|
rs140740708 | c.2854G > T | p.P952T | Tolerated | Benign | Conserved |
rs1635560 | c.4317 + 43G > A | - | - | - | - |
rs41272029 | c.2673G > C | p.G891G | - | - | Highly conserved |