R26W (p.Arg26Trp) variant of EYS (Protein eyes shut homolog)
R26W (p.Arg26Trp) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- rs764308269
- ClinGen CA3878135
- NCI-TCGA Cosmic COSV6098
- cosmic curated COSV60986
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.18
- CADD 8.58
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available