C34R (p.Cys34Arg) variant of CRB1 (Protein crumbs homolog 1)
C34R (p.Cys34Arg) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C34R (p.Cys34Arg) variant details
- p.Cys34Arg
- gnomAD 1-197328451-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.85
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available