D47N (p.Asp47Asn) variant of CRB1 (Protein crumbs homolog 1)
D47N (p.Asp47Asn) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- gnomAD rs1558056654
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.13
- MetaLR 0.60
- MetaSVM -0.39
- CADD 1.23
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available