S95A (p.Ser95Ala) variant of EYS (Protein eyes shut homolog)
S95A (p.Ser95Ala) 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 0.45 / 1. The record also includes population frequency data.
S95A (p.Ser95Ala) variant details
- p.Ser95Ala
- rs2533029384
- ClinGen CA364790249
- ClinVar RCV002838368
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available