P76S (p.Pro76Ser) variant of EYA1 (Protein phosphatase EYA1)
P76S (p.Pro76Ser) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P76S (p.Pro76Ser) variant details
- p.Pro76Ser
- gnomAD rs1822652918
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.27
- MetaLR 0.40
- MetaSVM -0.35
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available