S57I (p.Ser57Ile) variant of KRT9 (Keratin, type I cytoskeletal 9)
S57I (p.Ser57Ile) 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 0.26 / 1. The record also includes population frequency data and structural context.
S57I (p.Ser57Ile) variant details
- p.Ser57Ile
- ExAC rs771435082
- TOPMed rs771435082
- gnomAD rs771435082
- Uncertain significance
- Epidermolytic palmoplantar keratoderma, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.27
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Epidermolytic palmoplantar keratoderma, 1)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available