C39R (p.Cys39Arg) variant of CRB1 (Protein crumbs homolog 1)
C39R (p.Cys39Arg) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C39R (p.Cys39Arg) variant details
- p.Cys39Arg
- gnomAD 1-197328466-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.81
- MetaLR 0.96
- MetaSVM 1.08
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available