G55G (p.Gly55Gly) variant of TMEM43 (Transmembrane protein 43)
G55G (p.Gly55Gly) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G55G (p.Gly55Gly) variant details
- p.Gly55Gly
- rs1435344075
- gnomAD 3-14130824-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 3.55
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available