T52I (p.Thr52Ile) variant of EYA1 (Protein phosphatase EYA1)
T52I (p.Thr52Ile) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- 1000Genomes rs200206302
- ExAC rs200206302
- gnomAD rs200206302
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.99
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available