A34V (p.Ala34Val) variant of KEAP1 (Q14145)
A34V (p.Ala34Val) in KEAP1 (Q14145) 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 0.36 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- NCI-TCGA Cosmic COSV5064
- cosmic curated COSV50641
- Ensembl rs2144630477
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available