A134V (p.Ala134Val) variant of ABCC4 (O15439)
A134V (p.Ala134Val) in ABCC4 (O15439) 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 0.41 / 1. The record also includes population frequency data.
A134V (p.Ala134Val) variant details
- p.Ala134Val
- rs929768802
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- TOPMed rs929768802
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 21.30
- PolyPhen-2 0.38
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:DAUR population (allele frequency 0.056)