G82E (p.Gly82Glu) variant of KRT3 (Keratin, type II cytoskeletal 3)
G82E (p.Gly82Glu) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G82E (p.Gly82Glu) variant details
- p.Gly82Glu
- TOPMed rs1939630290
- gnomAD rs1939630290
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.49
- CADD 16.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available