I69L (p.Ile69Leu) variant of EYA1 (Protein phosphatase EYA1)
I69L (p.Ile69Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I69L (p.Ile69Leu) variant details
- p.Ile69Leu
- TOPMed rs1032162749
- gnomAD rs1032162749
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- MetaLR 0.25
- MetaSVM -0.62
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available