Q80H (p.Gln80His) variant of CRB1 (Protein crumbs homolog 1)
Q80H (p.Gln80His) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q80H (p.Gln80His) variant details
- p.Gln80His
- gnomAD 1-197328591-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.32
- MetaLR 0.63
- MetaSVM -0.25
- CADD 18.60
- PolyPhen-2 0.83
- SIFT 0.61
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available