S12G (p.Ser12Gly) variant of KRT17 (Keratin, type I cytoskeletal 17)
S12G (p.Ser12Gly) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. 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.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- TOPMed rs1266296732
- gnomAD rs1266296732
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- CADD 15.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available