S12R (p.Ser12Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
S12R (p.Ser12Arg) in KRT9 (Keratin, type I cytoskeletal 9) 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.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- TOPMed rs1162959947
- gnomAD rs1162959947
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.32
- CADD 5.24
- PolyPhen-2 0.01
- SIFT 0.42
- Population evidence available
- Structural context available