M47T (p.Met47Thr) variant of EYA1 (Protein phosphatase EYA1)
M47T (p.Met47Thr) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
M47T (p.Met47Thr) variant details
- p.Met47Thr
- TOPMed rs1323652552
- gnomAD rs1323652552
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.34
- MetaLR 0.27
- MetaSVM -0.73
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available