G72D (p.Gly72Asp) variant of KRT14 (Keratin, type I cytoskeletal 14)
G72D (p.Gly72Asp) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- ExAC rs750261536
- TOPMed rs750261536
- gnomAD rs750261536
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.29
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available