N30K (p.Asn30Lys) variant of CRB1 (Protein crumbs homolog 1)
N30K (p.Asn30Lys) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- gnomAD 1-197328440-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available