Y13C (p.Tyr13Cys) variant of CRB1 (Protein crumbs homolog 1)
Y13C (p.Tyr13Cys) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Y13C (p.Tyr13Cys) variant details
- p.Tyr13Cys
- ExAC rs776429571
- TOPMed rs776429571
- gnomAD rs776429571
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.20
- MetaLR 0.43
- MetaSVM -0.58
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available