N52D (p.Asn52Asp) variant of CRB1 (Protein crumbs homolog 1)
N52D (p.Asn52Asp) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N52D (p.Asn52Asp) variant details
- p.Asn52Asp
- gnomAD 1-197328505-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.13
- MetaLR 0.55
- MetaSVM -0.37
- CADD 1.93
- PolyPhen-2 0.02
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available