Y8C (p.Tyr8Cys) variant of CRB1 (Protein crumbs homolog 1)
Y8C (p.Tyr8Cys) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- gnomAD 1-197268435-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.23
- MetaLR 0.43
- MetaSVM -0.71
- CADD 9.95
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available