P78T (p.Pro78Thr) variant of CRB1 (Protein crumbs homolog 1)
P78T (p.Pro78Thr) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- gnomAD 1-197328583-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.72
- MetaLR 0.92
- MetaSVM 1.01
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available