G47V (p.Gly47Val) variant of SDHC (Q99643)
G47V (p.Gly47Val) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; not provided; Pheochromocytoma/pa. The record also includes variant effect predictions and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- Ensembl rs1571851599
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; not provided; Pheochromocytoma/pa
- Missense
- MetaLR 0.53
- MetaSVM -0.50
- SIFT 0.16
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; not provided; Phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available