A30V (p.Ala30Val) variant of ABCC8 (Q09428)
A30V (p.Ala30Val) in ABCC8 (Q09428) 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 0.73 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.66
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available