L190H (p.Leu190His) variant of EYS (Protein eyes shut homolog)
L190H (p.Leu190His) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
L190H (p.Leu190His) variant details
- p.Leu190His
- rs2533028141
- ClinGen CA364789625
- ClinVar RCV002654685
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.44
- CADD 22.90
- PolyPhen-2 0.91
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available