Y88H (p.Tyr88His) variant of EYA1 (Protein phosphatase EYA1)
Y88H (p.Tyr88His) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y88H (p.Tyr88His) variant details
- p.Tyr88His
- 1000Genomes rs534707284
- ExAC rs534707284
- gnomAD rs534707284
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.55
- MetaLR 0.71
- MetaSVM 0.45
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available