C56F (p.Cys56Phe) variant of CRB1 (Protein crumbs homolog 1)
C56F (p.Cys56Phe) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
C56F (p.Cys56Phe) variant details
- p.Cys56Phe
- Ensembl rs1658654421
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.76
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available