L63F (p.Leu63Phe) variant of CRB1 (Protein crumbs homolog 1)
L63F (p.Leu63Phe) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L63F (p.Leu63Phe) variant details
- p.Leu63Phe
- gnomAD rs1391243067
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.28
- MetaLR 0.36
- MetaSVM -0.61
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 3.3e-05)
- Structural context available