G27R (p.Gly27Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
G27R (p.Gly27Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- TOPMed rs1285438277
- gnomAD rs1285438277
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.52
- CADD 22.00
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available