G17D (p.Gly17Asp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G17D (p.Gly17Asp) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- 1000Genomes rs746679033
- ExAC rs746679033
- TOPMed rs746679033
- gnomAD rs746679033
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.35
- CADD 17.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available