G43D (p.Gly43Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G43D (p.Gly43Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- ExAC rs755733133
- TOPMed rs755733133
- gnomAD rs755733133
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.69
- CADD 23.60
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available