L103V (p.Leu103Val) variant of EYS (Protein eyes shut homolog)
L103V (p.Leu103Val) in EYS (Protein eyes shut homolog) 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 0.17 / 1. The record also includes population frequency data.
L103V (p.Leu103Val) variant details
- p.Leu103Val
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60993
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.26
- CADD 0.22
- PolyPhen-2 0.10
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available