G75D (p.Gly75Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
G75D (p.Gly75Asp) in KRT13 (Keratin, type I cytoskeletal 13) 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.
G75D (p.Gly75Asp) variant details
- p.Gly75Asp
- ExAC rs749334030
- gnomAD rs749334030
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.39
- CADD 18.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available