G6R (p.Gly6Arg) variant of TMEM127 (Transmembrane protein 127)
G6R (p.Gly6Arg) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- gnomAD 2-96265366-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.56
- MetaLR 0.87
- MetaSVM 0.95
- CADD 27.50
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available