V41I (p.Val41Ile) variant of EYS (Protein eyes shut homolog)
V41I (p.Val41Ile) 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 0.20 / 1. The record also includes population frequency data.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.10
- CADD 14.90
- PolyPhen-2 0.12
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available