L9F (p.Leu9Phe) variant of CRB1 (Protein crumbs homolog 1)
L9F (p.Leu9Phe) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD 1-197268437-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.11
- MetaLR 0.54
- MetaSVM -0.25
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.49
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available