G12R (p.Gly12Arg) variant of SDHD (O14521)
G12R (p.Gly12Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs34677591
- ClinGen CA382616709
- ClinVar RCV003061423
- Uncertain significance
- Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.09
- MetaLR 0.40
- MetaSVM -0.16
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)