G67D (p.Gly67Asp) variant of KRT14 (Keratin, type I cytoskeletal 14)
G67D (p.Gly67Asp) in KRT14 (Keratin, type I cytoskeletal 14) 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.
G67D (p.Gly67Asp) variant details
- p.Gly67Asp
- ExAC rs780585472
- gnomAD rs780585472
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.49
- CADD 21.50
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available