T44P (p.Thr44Pro) variant of CRB1 (Protein crumbs homolog 1)
T44P (p.Thr44Pro) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T44P (p.Thr44Pro) variant details
- p.Thr44Pro
- gnomAD 1-197328481-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.53
- MetaLR 0.85
- MetaSVM 0.19
- CADD 16.80
- PolyPhen-2 0.89
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available