C39F (p.Cys39Phe) variant of CRB1 (Protein crumbs homolog 1)
C39F (p.Cys39Phe) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C39F (p.Cys39Phe) variant details
- p.Cys39Phe
- TOPMed rs1306367660
- gnomAD rs1306367660
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.88
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available