L19P (p.Leu19Pro) variant of CRB1 (Protein crumbs homolog 1)
L19P (p.Leu19Pro) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 1-197268468-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.56
- MetaLR 0.65
- MetaSVM 0.05
- CADD 26.40
- PolyPhen-2 0.91
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available