K4N (p.Lys4Asn) variant of CRB1 (Protein crumbs homolog 1)
K4N (p.Lys4Asn) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- gnomAD rs1452970703
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.15
- MetaLR 0.45
- MetaSVM -0.55
- CADD 20.60
- PolyPhen-2 0.04
- SIFT 0.48
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available