G41S (p.Gly41Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
G41S (p.Gly41Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- rs201530335
- ClinGen CA8562312
- ClinVar RCV001127350
- 1000Genomes rs201530335
- Uncertain significance
- Palmoplantar keratoderma, epidermolytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.36
- CADD 2.78
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Palmoplantar keratoderma, epidermolytic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available