T56A (p.Thr56Ala) variant of EYA1 (Protein phosphatase EYA1)
T56A (p.Thr56Ala) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- gnomAD rs1248918883
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.05
- MetaLR 0.13
- MetaSVM -1.02
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available