Q81R (p.Gln81Arg) variant of EYA1 (Protein phosphatase EYA1)
Q81R (p.Gln81Arg) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q81R (p.Gln81Arg) variant details
- p.Gln81Arg
- TOPMed rs1822649069
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.18
- MetaLR 0.47
- MetaSVM -0.26
- CADD 22.90
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available