G40* (p.Gly40Ter) variant of KRT3 (Keratin, type II cytoskeletal 3)
G40* (p.Gly40Ter) in KRT3 (Keratin, type II cytoskeletal 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G40* (p.Gly40Ter) variant details
- p.Gly40Ter
- 1000Genomes rs199902669
- ESP rs199902669
- ExAC rs199902669
- TOPMed rs199902669
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 33.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available