S38Y (p.Ser38Tyr) variant of CRB1 (Protein crumbs homolog 1)
S38Y (p.Ser38Tyr) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S38Y (p.Ser38Tyr) variant details
- p.Ser38Tyr
- TOPMed rs1295716280
- gnomAD rs1295716280
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.55
- MetaLR 0.80
- MetaSVM 0.68
- CADD 24.40
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available