G22D (p.Gly22Asp) variant of KRT17 (Keratin, type I cytoskeletal 17)
G22D (p.Gly22Asp) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- ExAC rs759780535
- gnomAD rs759780535
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.48
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available