G119D (p.Gly119Asp) variant of KRT12 (Keratin, type I cytoskeletal 12)
G119D (p.Gly119Asp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G119D (p.Gly119Asp) variant details
- p.Gly119Asp
- ExAC rs751895683
- TOPMed rs751895683
- gnomAD rs751895683
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- CADD 19.50
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available