P131S (p.Pro131Ser) variant of ABCC9 (O60706)
P131S (p.Pro131Ser) in ABCC9 (O60706) 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 0.84 / 1. The record also includes population frequency data and structural context.
P131S (p.Pro131Ser) variant details
- p.Pro131Ser
- rs751708268
- NCI-TCGA Cosmic COSV5398
- cosmic curated COSV53989
- ExAC rs751708268
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.86
- CADD 28.20
- PolyPhen-2 0.79
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available