G48D (p.Gly48Asp) variant of KRT14 (Keratin, type I cytoskeletal 14)
G48D (p.Gly48Asp) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- 1000Genomes rs550076306
- gnomAD rs550076306
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.35
- CADD 23.00
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available