S62I (p.Ser62Ile) variant of KRT17 (Keratin, type I cytoskeletal 17)
S62I (p.Ser62Ile) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S62I (p.Ser62Ile) variant details
- p.Ser62Ile
- TOPMed rs1190242046
- gnomAD rs1190242046
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.41
- CADD 18.20
- PolyPhen-2 0.20
- SIFT 0.25
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available