C79R (p.Cys79Arg) variant of CRB1 (Protein crumbs homolog 1)
C79R (p.Cys79Arg) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C79R (p.Cys79Arg) variant details
- p.Cys79Arg
- ExAC rs761047352
- gnomAD rs761047352
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.91
- MetaLR 1.00
- MetaSVM 1.32
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available