G16W (p.Gly16Trp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G16W (p.Gly16Trp) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G16W (p.Gly16Trp) variant details
- p.Gly16Trp
- ExAC rs780699884
- TOPMed rs780699884
- gnomAD rs780699884
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.34
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available