A32V (p.Ala32Val) variant of APOL1 (Apolipoprotein L1)
A32V (p.Ala32Val) in APOL1 (Apolipoprotein L1) 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 0.06 / 1. The record also includes population frequency data and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs753380461
- NCI-TCGA Cosmic COSV5986
- cosmic curated COSV59869
- ExAC rs753380461
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0578
- REVEL 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available