L25I (p.Leu25Ile) variant of EYA1 (Protein phosphatase EYA1)
L25I (p.Leu25Ile) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L25I (p.Leu25Ile) variant details
- p.Leu25Ile
- ExAC rs752696368
- gnomAD rs752696368
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.07
- MetaLR 0.23
- MetaSVM -0.82
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available