G6D (p.Gly6Asp) variant of TMEM127 (Transmembrane protein 127)
G6D (p.Gly6Asp) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- gnomAD 2-96265365-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.53
- CADD 26.50
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available