A81V (p.Ala81Val) variant of SLC22A2 (O15244)
A81V (p.Ala81Val) in SLC22A2 (O15244) 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 0.07 / 1. The record also includes population frequency data and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- rs771745592
- NCI-TCGA Cosmic COSV6526
- cosmic curated COSV65266
- ExAC rs771745592
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0727
- REVEL 0.08
- CADD 0.05
- PolyPhen-2 0.16
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available