K22N (p.Lys22Asn) variant of GJB2 (Gap junction beta-2 protein)
K22N (p.Lys22Asn) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Palmoplantar keratoderma-deafness syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
K22N (p.Lys22Asn) variant details
- p.Lys22Asn
- rs879253741
- ClinGen CA10584002
- ClinVar RCV000234850
- Ensembl rs879253741
- Pathogenic
- Palmoplantar keratoderma-deafness syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Palmoplantar keratoderma-deafness syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available