A2V (p.Ala2Val) variant of TMEM43 (Transmembrane protein 43)
A2V (p.Ala2Val) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 3-14125198-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.06
- CADD 21.50
- PolyPhen-2 0.08
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available