R27G (p.Arg27Gly) variant of SDHB (P21912)
R27G (p.Arg27Gly) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs74315369
- ClinGen CA016179
- ClinVar RCV000148870
- ClinVar RCV000408969
- Conflicting interpretations
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.61
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)
- Cited in: Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. (PMID 25190698)