G46V (p.Gly46Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G46V (p.Gly46Val) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- TOPMed rs1445408084
- gnomAD rs1445408084
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- CADD 14.80
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available