D72E (p.Asp72Glu) variant of CRB1 (Protein crumbs homolog 1)
D72E (p.Asp72Glu) 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 0.33 / 1. The record also includes population frequency data and structural context.
D72E (p.Asp72Glu) variant details
- p.Asp72Glu
- TOPMed rs972854308
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.35
- MetaLR 0.78
- MetaSVM 0.40
- CADD 12.80
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available