A239S (p.Ala239Ser) variant of EYS (Protein eyes shut homolog)
A239S (p.Ala239Ser) 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.
A239S (p.Ala239Ser) variant details
- p.Ala239Ser
- NCI-TCGA Cosmic COSV6098
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.14
- CADD 3.47
- PolyPhen-2 0.00
- SIFT 0.80
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available