S60Y (p.Ser60Tyr) variant of EYA1 (Protein phosphatase EYA1)
S60Y (p.Ser60Tyr) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S60Y (p.Ser60Tyr) variant details
- p.Ser60Tyr
- cosmic curated COSV10037
- 1000Genomes rs2129047013
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.19
- MetaLR 0.20
- MetaSVM -0.79
- CADD 24.20
- PolyPhen-2 0.15
- SIFT 0.00
- Population evidence available
- Structural context available