K29N (p.Lys29Asn) variant of CRB1 (Protein crumbs homolog 1)
K29N (p.Lys29Asn) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- TOPMed rs1658647423
- gnomAD rs1658647423
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.37
- MetaLR 0.64
- MetaSVM 0.12
- CADD 23.10
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available