G40D (p.Gly40Asp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G40D (p.Gly40Asp) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- ExAC rs750515556
- TOPMed rs750515556
- gnomAD rs750515556
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.48
- CADD 17.40
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available