C192R (p.Cys192Arg) variant of SDHB (P21912)
C192R (p.Cys192Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C192R (p.Cys192Arg) variant details
- p.Cys192Arg
- rs786202732
- ClinGen CA015973
- ClinVar RCV000165688
- ClinVar RCV000482399
- Pathogenic
- Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointest)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PMID 15328326)