R13L (p.Arg13Leu) variant of TMEM127 (Transmembrane protein 127)
R13L (p.Arg13Leu) in TMEM127 (Transmembrane protein 127) 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.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- gnomAD 2-96265344-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.36
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available