G21R (p.Gly21Arg) variant of KRT14 (Keratin, type I cytoskeletal 14)
G21R (p.Gly21Arg) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- TOPMed rs1253837899
- gnomAD rs1253837899
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.50
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available