G43S (p.Gly43Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G43S (p.Gly43Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- ExAC rs765986155
- TOPMed rs765986155
- gnomAD rs765986155
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.50
- CADD 21.90
- PolyPhen-2 0.27
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available