D68E (p.Asp68Glu) variant of CRB1 (Protein crumbs homolog 1)
D68E (p.Asp68Glu) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- ExAC rs747895417
- gnomAD rs747895417
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.20
- MetaLR 0.35
- MetaSVM -0.57
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available