L19F (p.Leu19Phe) variant of CRB1 (Protein crumbs homolog 1)
L19F (p.Leu19Phe) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- gnomAD 1-197268467-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.17
- MetaLR 0.35
- MetaSVM -0.64
- CADD 16.40
- PolyPhen-2 0.04
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available