G20V (p.Gly20Val) variant of TMEM127 (Transmembrane protein 127)
G20V (p.Gly20Val) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma. The record also includes variant effect predictions and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD rs1295676044
- Uncertain significance
- Pheochromocytoma
- Missense
- MetaLR 0.26
- MetaSVM -0.74
- SIFT 0.02
- ClinVar: Uncertain significance (Pheochromocytoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available