A2E (p.Ala2Glu) variant of CRB1 (Protein crumbs homolog 1)
A2E (p.Ala2Glu) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 1-197268417-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.16
- MetaLR 0.36
- MetaSVM -0.77
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available