S12G (p.Ser12Gly) variant of KRT9 (Keratin, type I cytoskeletal 9)
S12G (p.Ser12Gly) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- TOPMed rs1162959947
- gnomAD rs1162959947
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.24
- CADD 6.05
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available