P101S (p.Pro101Ser) variant of EYA1 (Protein phosphatase EYA1)
P101S (p.Pro101Ser) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P101S (p.Pro101Ser) variant details
- p.Pro101Ser
- ESP rs138603867
- ExAC rs138603867
- TOPMed rs138603867
- gnomAD rs138603867
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.54
- MetaLR 0.77
- MetaSVM 0.57
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available