R19G (p.Arg19Gly) variant of KRT12 (Keratin, type I cytoskeletal 12)
R19G (p.Arg19Gly) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- 1000Genomes rs200258980
- ExAC rs200258980
- TOPMed rs200258980
- gnomAD rs200258980
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.13
- CADD 15.50
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available