R14L (p.Arg14Leu) variant of TMEM127 (Transmembrane protein 127)
R14L (p.Arg14Leu) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- gnomAD 2-96265341-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.49
- CADD 25.40
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available