G43R (p.Gly43Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G43R (p.Gly43Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- ExAC rs765986155
- TOPMed rs765986155
- gnomAD rs765986155
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.44
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available