I69V (p.Ile69Val) variant of EYA1 (Protein phosphatase EYA1)
I69V (p.Ile69Val) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I69V (p.Ile69Val) variant details
- p.Ile69Val
- TOPMed rs1032162749
- gnomAD rs1032162749
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.09
- MetaLR 0.29
- MetaSVM -0.67
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available