Q181P (p.Gln181Pro) variant of KRT2 (P35908)
Q181P (p.Gln181Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Q181P (p.Gln181Pro) variant details
- p.Gln181Pro
- rs57510142
- ClinGen CA120292
- ClinVar RCV000009896
- UniProt VAR 003865
- Likely pathogenic
- Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Ichthyosis bullosa of Siemens)
- EBI: Pathogenic (in IBS)
- UniProt: Pathogenic (in IBS)
- Structural context available
- Cited in: Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. (PMID 1380918)
- Cited in: Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. (PMID 8077693)