G19E (p.Gly19Glu) variant of KRT9 (Keratin, type I cytoskeletal 9)
G19E (p.Gly19Glu) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- TOPMed rs1907105346
- gnomAD rs1907105346
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.32
- CADD 18.30
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available