I116V (p.Ile116Val) variant of ABCC4 (O15439)
I116V (p.Ile116Val) 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 0.64 / 1. The record also includes population frequency data.
I116V (p.Ile116Val) variant details
- p.Ile116Val
- NCI-TCGA Cosmic COSV6531
- cosmic curated COSV65315
- Ensembl rs2039719324
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available