A68V (p.Ala68Val) variant of KCNMA1 (Q12791)
A68V (p.Ala68Val) in KCNMA1 (Q12791) 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 0.58 / 1. The record also includes population frequency data.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- NCI-TCGA Cosmic COSV5426
- cosmic curated COSV54260
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 15.90
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available