A2A (p.Ala2Ala) variant of TMEM43 (Transmembrane protein 43)
A2A (p.Ala2Ala) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1262797668
- gnomAD 3-14125199-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.79
- Population evidence available
- Structural context available
- Literature evidence available