G46A (p.Gly46Ala) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G46A (p.Gly46Ala) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G46A (p.Gly46Ala) variant details
- p.Gly46Ala
- TOPMed rs1445408084
- gnomAD rs1445408084
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.47
- CADD 14.30
- PolyPhen-2 0.14
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available