A90V (p.Ala90Val) variant of KCNJ10 (P78508)
A90V (p.Ala90Val) in KCNJ10 (P78508) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- rs771759286
- ExAC rs771759286
- gnomAD rs771759286
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available