G6C (p.Gly6Cys) variant of TMEM127 (Transmembrane protein 127)
G6C (p.Gly6Cys) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 2-96265366-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.55
- CADD 28.50
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available