R46Q (p.Arg46Gln) variant of SDHB (P21912)
R46Q (p.Arg46Gln) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SDHB-related disorder; Mitochondrial complex 2 deficiency, nuclear type 4; Gastr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs772551056
- ClinGen CA015517
- ClinVar RCV000162578
- ClinVar RCV000183217
- Pathogenic/Likely pathogenic
- SDHB-related disorder; Mitochondrial complex 2 deficiency, nuclear type 4; Gastr
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.91
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SDHB-related disorder; Mitochondrial complex 2 deficiency, nucle)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an… (PMID 12618761)
- Cited in: Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. (PMID 14500403)