G99E (p.Gly99Glu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G99E (p.Gly99Glu) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G99E (p.Gly99Glu) variant details
- p.Gly99Glu
- gnomAD rs1366130157
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.47
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available