S37L (p.Ser37Leu) variant of EYS (Protein eyes shut homolog)
S37L (p.Ser37Leu) 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 0.23 / 1. The record also includes population frequency data.
S37L (p.Ser37Leu) variant details
- p.Ser37Leu
- NCI-TCGA Cosmic COSV6098
- cosmic curated COSV60989
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.15
- CADD 9.77
- PolyPhen-2 0.00
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available