C34Y (p.Cys34Tyr) variant of CRB1 (Protein crumbs homolog 1)
C34Y (p.Cys34Tyr) 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.
C34Y (p.Cys34Tyr) variant details
- p.Cys34Tyr
- TOPMed rs916428055
- gnomAD rs916428055
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.84
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available