G16A (p.Gly16Ala) variant of KRT17 (Keratin, type I cytoskeletal 17)
G16A (p.Gly16Ala) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- ExAC rs781364097
- TOPMed rs781364097
- gnomAD rs781364097
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.34
- CADD 22.10
- PolyPhen-2 0.56
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available