F82Y (p.Phe82Tyr) variant of EYA1 (Protein phosphatase EYA1)
F82Y (p.Phe82Tyr) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
F82Y (p.Phe82Tyr) variant details
- p.Phe82Tyr
- ExAC rs777629266
- gnomAD rs777629266
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.24
- MetaLR 0.04
- MetaSVM -1.01
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available