A32D (p.Ala32Asp) variant of TMEM127 (Transmembrane protein 127)
A32D (p.Ala32Asp) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A32D (p.Ala32Asp) variant details
- p.Ala32Asp
- gnomAD 2-96265287-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.58
- CADD 27.40
- PolyPhen-2 0.47
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available