S199G (p.Ser199Gly) variant of EYS (Protein eyes shut homolog)
S199G (p.Ser199Gly) 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 0.22 / 1. The record also includes population frequency data.
S199G (p.Ser199Gly) variant details
- p.Ser199Gly
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60999
- TOPMed rs1312139735
- gnomAD rs1312139735
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.20
- CADD 10.90
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available