D51Y (p.Asp51Tyr) variant of CRB1 (Protein crumbs homolog 1)
D51Y (p.Asp51Tyr) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- gnomAD 1-197328502-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.46
- MetaLR 0.83
- MetaSVM 0.83
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available