K199N (p.Lys199Asn) variant of KRT5 (Keratin, type II cytoskeletal 5)
K199N (p.Lys199Asn) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Dowling-Degos disease 1. The record also includes structural context.
K199N (p.Lys199Asn) variant details
- p.Lys199Asn
- rs2498407244
- ClinGen CA384927877
- ClinVar RCV003062518
- ClinVar RCV003225775
- Pathogenic/Likely pathogenic
- not provided; Dowling-Degos disease 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Dowling-Degos disease 1)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Structural context available