E27G (p.Glu27Gly) variant of TMEM43 (Transmembrane protein 43)
E27G (p.Glu27Gly) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- ExAC rs760725387
- gnomAD rs760725387
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.41
- CADD 29.50
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available