E27E (p.Glu27Glu) variant of TMEM43 (Transmembrane protein 43)
E27E (p.Glu27Glu) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs764648241
- gnomAD 3-14129480-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 9.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available