E28D (p.Glu28Asp) variant of TMEM127 (Transmembrane protein 127)
E28D (p.Glu28Asp) 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.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD 2-96265298-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.65
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available