I87T (p.Ile87Thr) variant of EYA1 (Protein phosphatase EYA1)
I87T (p.Ile87Thr) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
I87T (p.Ile87Thr) variant details
- p.Ile87Thr
- ExAC rs755452077
- gnomAD rs755452077
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.51
- MetaLR 0.52
- MetaSVM -0.22
- CADD 25.90
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available