G16D (p.Gly16Asp) variant of KRT17 (Keratin, type I cytoskeletal 17)
G16D (p.Gly16Asp) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- ExAC rs781364097
- TOPMed rs781364097
- gnomAD rs781364097
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available