C34F (p.Cys34Phe) variant of CRB1 (Protein crumbs homolog 1)
C34F (p.Cys34Phe) 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, published literature, and structural context.
C34F (p.Cys34Phe) variant details
- p.Cys34Phe
- gnomAD 1-197328452-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.84
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available