F51V (p.Phe51Val) variant of TMEM43 (Transmembrane protein 43)
F51V (p.Phe51Val) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F51V (p.Phe51Val) variant details
- p.Phe51Val
- gnomAD 3-14129550-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.39
- CADD 28.80
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available