D72H (p.Asp72His) variant of CRB1 (Protein crumbs homolog 1)
D72H (p.Asp72His) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D72H (p.Asp72His) variant details
- p.Asp72His
- cosmic curated COSV66350
- gnomAD rs1222749407
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.46
- MetaLR 0.87
- MetaSVM 0.84
- CADD 21.90
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available