G47E (p.Gly47Glu) variant of KRT14 (Keratin, type I cytoskeletal 14)
G47E (p.Gly47Glu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- gnomAD rs1194215362
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.53
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available