Y167S (p.Tyr167Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
Y167S (p.Tyr167Ser) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Palmoplantar keratoderma, epidermolytic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
Y167S (p.Tyr167Ser) variant details
- p.Tyr167Ser
- rs2144572252
- ClinGen CA399500834
- ClinVar RCV002251120
- Ensembl rs2144572252
- Likely pathogenic
- Palmoplantar keratoderma, epidermolytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- MutPred 0.88
- ClinVar: Likely pathogenic (Palmoplantar keratoderma, epidermolytic)
- EBI: Likely pathogenic (in EPPK1)
- UniProt: Likely pathogenic (in EPPK1)
- Structural context available