G34C (p.Gly34Cys) variant of TMEM43 (Transmembrane protein 43)
G34C (p.Gly34Cys) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- TOPMed rs1376541965
- gnomAD rs1376541965
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available