T40A (p.Thr40Ala) variant of EYA1 (Protein phosphatase EYA1)
T40A (p.Thr40Ala) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- TOPMed rs1196497532
- gnomAD rs1196497532
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.42
- MetaLR 0.73
- MetaSVM 0.51
- CADD 26.40
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available