G46E (p.Gly46Glu) variant of KRT13 (Keratin, type I cytoskeletal 13)
G46E (p.Gly46Glu) in KRT13 (Keratin, type I cytoskeletal 13) 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.
G46E (p.Gly46Glu) variant details
- p.Gly46Glu
- TOPMed rs1333018498
- gnomAD rs1333018498
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.40
- CADD 19.90
- PolyPhen-2 0.92
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available