V62A (p.Val62Ala) variant of KCNJ5 (P48544)
V62A (p.Val62Ala) in KCNJ5 (P48544) 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 0.83 / 1. The record also includes population frequency data and structural context.
V62A (p.Val62Ala) variant details
- p.Val62Ala
- NCI-TCGA Cosmic COSV5796
- cosmic curated COSV57966
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.96
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available