K22N (p.Lys22Asn) variant of ABCA4 (P78363)
K22N (p.Lys22Asn) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K22N (p.Lys22Asn) variant details
- p.Lys22Asn
- rs2101191227
- ClinGen CA341288484
- ClinVar RCV001953911
- Ensembl rs2101191227
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.20
- MetaLR 0.21
- MetaSVM -0.68
- CADD 36.00
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available