D47E (p.Asp47Glu) variant of CRB1 (Protein crumbs homolog 1)
D47E (p.Asp47Glu) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- gnomAD 1-197328492-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.26
- MetaLR 0.69
- MetaSVM -0.15
- CADD 1.66
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available