E54E (p.Glu54Glu) variant of TMEM43 (Transmembrane protein 43)
E54E (p.Glu54Glu) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E54E (p.Glu54Glu) variant details
- p.Glu54Glu
- rs746126153
- gnomAD 3-14129561-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available