R13H (p.Arg13His) variant of TMEM127 (Transmembrane protein 127)
R13H (p.Arg13His) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- gnomAD 2-96265344-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.44
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available