S12R (p.Ser12Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
S12R (p.Ser12Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- ExAC rs759651770
- TOPMed rs759651770
- gnomAD rs759651770
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available