S57N (p.Ser57Asn) variant of KRT9 (Keratin, type I cytoskeletal 9)
S57N (p.Ser57Asn) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Epidermolytic palmoplantar keratoderma, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S57N (p.Ser57Asn) variant details
- p.Ser57Asn
- ExAC rs771435082
- TOPMed rs771435082
- gnomAD rs771435082
- Uncertain significance
- Epidermolytic palmoplantar keratoderma, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.15
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Epidermolytic palmoplantar keratoderma, 1)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available