N69H (p.Asn69His) variant of CRB1 (Protein crumbs homolog 1)
N69H (p.Asn69His) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N69H (p.Asn69His) variant details
- p.Asn69His
- Ensembl rs893763475
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.30
- MetaLR 0.48
- MetaSVM -0.41
- CADD 0.06
- PolyPhen-2 0.26
- SIFT 0.08
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available