N31K (p.Asn31Lys) variant of CRB1 (Protein crumbs homolog 1)
N31K (p.Asn31Lys) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- gnomAD 1-197328444-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.22
- MetaLR 0.56
- MetaSVM -0.15
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available