P101A (p.Pro101Ala) variant of EYA1 (Protein phosphatase EYA1)
P101A (p.Pro101Ala) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P101A (p.Pro101Ala) variant details
- p.Pro101Ala
- ESP rs138603867
- ExAC rs138603867
- TOPMed rs138603867
- gnomAD rs138603867
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.56
- MetaLR 0.77
- MetaSVM 0.63
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available