G66W (p.Gly66Trp) variant of KRT14 (Keratin, type I cytoskeletal 14)
G66W (p.Gly66Trp) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G66W (p.Gly66Trp) variant details
- p.Gly66Trp
- ExAC rs749619996
- gnomAD rs749619996
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.58
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available