H10R (p.His10Arg) variant of EYA1 (Protein phosphatase EYA1)
H10R (p.His10Arg) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H10R (p.His10Arg) variant details
- p.His10Arg
- TOPMed rs1052858465
- gnomAD rs1052858465
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.48
- MetaLR 0.74
- MetaSVM 0.44
- CADD 23.30
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available