V12I (p.Val12Ile) variant of KCNJ2 (P63252)
V12I (p.Val12Ile) in KCNJ2 (P63252) 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 0.42 / 1. The record also includes population frequency data and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- NCI-TCGA Cosmic COSV5465
- cosmic curated COSV54659
- gnomAD rs2074384248
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.22
- MetaLR 0.22
- MetaSVM -0.85
- CADD 24.00
- PolyPhen-2 0.90
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available