N133K (p.Asn133Lys) variant of KRT12 (Keratin, type I cytoskeletal 12)
N133K (p.Asn133Lys) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
N133K (p.Asn133Lys) variant details
- p.Asn133Lys
- rs61167390
- Ensembl rs61167390
- ClinGen CA216513
- ClinVar RCV000056419
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available