N52K (p.Asn52Lys) variant of CRB1 (Protein crumbs homolog 1)
N52K (p.Asn52Lys) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N52K (p.Asn52Lys) variant details
- p.Asn52Lys
- gnomAD 1-197328507-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.13
- MetaLR 0.56
- MetaSVM -0.38
- CADD 2.50
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available