A57P (p.Ala57Pro) variant of TMEM43 (Transmembrane protein 43)
A57P (p.Ala57Pro) 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.
A57P (p.Ala57Pro) variant details
- p.Ala57Pro
- gnomAD 3-14130828-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.36
- MetaLR 0.23
- MetaSVM -0.70
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available