G16R (p.Gly16Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
G16R (p.Gly16Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- ExAC rs752143093
- TOPMed rs752143093
- gnomAD rs752143093
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.24
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available