N186Y (p.Asn186Tyr) variant of KRT2 (P35908)
N186Y (p.Asn186Tyr) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
N186Y (p.Asn186Tyr) variant details
- p.Asn186Tyr
- rs137852631
- ClinGen CA120294
- ClinVar RCV000009898
- ClinVar RCV000056538
- Pathogenic
- Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Ichthyosis bullosa of Siemens)
- EBI: Pathogenic (in IBS)
- UniProt: Pathogenic (in IBS)
- Structural context available
- Cited in: Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in… (PMID 9804344)
- Cited in: A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. (PMID 10084318)