L3F (p.Leu3Phe) variant of CRB1 (Protein crumbs homolog 1)
L3F (p.Leu3Phe) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- 1000Genomes rs562543590
- ExAC rs562543590
- TOPMed rs562543590
- gnomAD rs562543590
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.23
- MetaLR 0.52
- MetaSVM -0.48
- CADD 9.60
- PolyPhen-2 0.24
- SIFT 0.33
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available