G17V (p.Gly17Val) variant of KRT9 (Keratin, type I cytoskeletal 9)
G17V (p.Gly17Val) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- 1000Genomes rs746679033
- ExAC rs746679033
- TOPMed rs746679033
- gnomAD rs746679033
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.34
- CADD 16.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available