A57G (p.Ala57Gly) variant of TMEM43 (Transmembrane protein 43)
A57G (p.Ala57Gly) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A57G (p.Ala57Gly) variant details
- p.Ala57Gly
- gnomAD 3-14130829-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.23
- MetaLR 0.11
- MetaSVM -0.98
- CADD 21.50
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available