G19D (p.Gly19Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
G19D (p.Gly19Asp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- ExAC rs746421136
- gnomAD rs746421136
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.49
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available