S10R (p.Ser10Arg) variant of EYS (Protein eyes shut homolog)
S10R (p.Ser10Arg) 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 0.28 / 1. The record also includes population frequency data.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- NCI-TCGA Cosmic COSV6098
- cosmic curated COSV60981
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.29
- CADD 9.29
- PolyPhen-2 0.49
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available