N186S (p.Asn186Ser) variant of KRT2 (P35908)
N186S (p.Asn186Ser) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ichthyosis bullosa of Siemens. The record also includes structural context.
N186S (p.Asn186Ser) variant details
- p.Asn186Ser
- rs2498607356
- ClinVar RCV004586429
- Likely pathogenic
- Ichthyosis bullosa of Siemens
- Missense
- ClinVar: Likely pathogenic (Ichthyosis bullosa of Siemens)
- EBI: Likely pathogenic (in IBS)
- UniProt: Likely pathogenic (in IBS)
- Structural context available