D51E (p.Asp51Glu) variant of CRB1 (Protein crumbs homolog 1)
D51E (p.Asp51Glu) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- gnomAD 1-197328504-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.21
- MetaLR 0.76
- MetaSVM -0.06
- CADD 10.30
- PolyPhen-2 0.99
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available