Q22* (p.Gln22Ter) variant of TMEM43 (Transmembrane protein 43)
Q22* (p.Gln22Ter) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- rs1695063853
- ClinGen CA351534260
- ClinVar RCV001174705
- NCI-TCGA TCGA novel
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available