Q6H (p.Gln6His) variant of KRT13 (Keratin, type I cytoskeletal 13)
Q6H (p.Gln6His) in KRT13 (Keratin, type I cytoskeletal 13) 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.
Q6H (p.Gln6His) variant details
- p.Gln6His
- 1000Genomes rs146289936
- TOPMed rs146289936
- gnomAD rs146289936
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.31
- CADD 23.60
- PolyPhen-2 0.71
- SIFT 0.12
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available