D122V (p.Asp122Val) variant of EYS (Protein eyes shut homolog)
D122V (p.Asp122Val) 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 0.52 / 1. The record also includes population frequency data.
D122V (p.Asp122Val) variant details
- p.Asp122Val
- rs2533028973
- ClinGen CA364790075
- ClinVar RCV002700081
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.63
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available