V159I (p.Val159Ile) variant of ABCC4 (O15439)
V159I (p.Val159Ile) 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 0.44 / 1. The record also includes population frequency data.
V159I (p.Val159Ile) variant details
- p.Val159Ile
- rs745785051
- cosmic curated COSV10592
- ExAC rs745785051
- gnomAD rs745785051
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 16.90
- PolyPhen-2 0.09
- SIFT 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)