E27* (p.Glu27Ter) variant of TMEM43 (Transmembrane protein 43)
E27* (p.Glu27Ter) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- gnomAD 3-14129478-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available