C34W (p.Cys34Trp) variant of CRB1 (Protein crumbs homolog 1)
C34W (p.Cys34Trp) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C34W (p.Cys34Trp) variant details
- p.Cys34Trp
- Ensembl rs2125303585
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.77
- MetaLR 0.96
- MetaSVM 1.04
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available