P85S (p.Pro85Ser) variant of EYA1 (Protein phosphatase EYA1)
P85S (p.Pro85Ser) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P85S (p.Pro85Ser) variant details
- p.Pro85Ser
- TOPMed rs1237828849
- gnomAD rs1237828849
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.13
- MetaLR 0.15
- MetaSVM -0.78
- CADD 21.10
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available