Y71C (p.Tyr71Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
Y71C (p.Tyr71Cys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Palmoplantar keratoderma, epidermolytic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Y71C (p.Tyr71Cys) variant details
- p.Tyr71Cys
- rs1350886851
- ClinGen CA399503108
- ClinVar RCV001127349
- gnomAD rs1350886851
- Uncertain significance
- Palmoplantar keratoderma, epidermolytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.28
- CADD 13.50
- PolyPhen-2 0.26
- SIFT 0.16
- ClinVar: Uncertain significance (Palmoplantar keratoderma, epidermolytic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available