R164L (p.Arg164Leu) variant of EYS (Protein eyes shut homolog)
R164L (p.Arg164Leu) 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 0.44 / 1. The record also includes population frequency data.
R164L (p.Arg164Leu) variant details
- p.Arg164Leu
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- NCI-TCGA Cosmic COSV6100
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.53
- CADD 17.30
- PolyPhen-2 0.22
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available