F25L (p.Phe25Leu) variant of TMEM43 (Transmembrane protein 43)
F25L (p.Phe25Leu) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
F25L (p.Phe25Leu) variant details
- p.Phe25Leu
- gnomAD 3-14129472-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.21
- CADD 27.40
- PolyPhen-2 0.66
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available