G18D (p.Gly18Asp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G18D (p.Gly18Asp) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- TOPMed rs1162126966
- gnomAD rs1162126966
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.34
- CADD 17.30
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available