D64H (p.Asp64His) variant of CRB1 (Protein crumbs homolog 1)
D64H (p.Asp64His) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D64H (p.Asp64His) variant details
- p.Asp64His
- ExAC rs779941462
- gnomAD rs779941462
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.38
- MetaLR 0.73
- MetaSVM 0.50
- CADD 23.50
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available