D72A (p.Asp72Ala) variant of CRB1 (Protein crumbs homolog 1)
D72A (p.Asp72Ala) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D72A (p.Asp72Ala) variant details
- p.Asp72Ala
- TOPMed rs1658658603
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.48
- MetaLR 0.86
- MetaSVM 0.87
- CADD 19.40
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available