P78H (p.Pro78His) variant of CRB1 (Protein crumbs homolog 1)
P78H (p.Pro78His) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P78H (p.Pro78His) variant details
- p.Pro78His
- gnomAD 1-197328584-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.77
- MetaLR 0.94
- MetaSVM 1.07
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available