N37Y (p.Asn37Tyr) variant of CRB1 (Protein crumbs homolog 1)
N37Y (p.Asn37Tyr) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N37Y (p.Asn37Tyr) variant details
- p.Asn37Tyr
- TOPMed rs1380193935
- gnomAD rs1380193935
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.36
- MetaLR 0.81
- MetaSVM 0.20
- CADD 20.30
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available