R242H (p.Arg242His) variant of SDHB (P21912)
R242H (p.Arg242His) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R242H (p.Arg242His) variant details
- p.Arg242His
- rs74315368
- ClinGen CA016163
- ClinVar RCV000013619
- ClinVar RCV000022778
- Pathogenic/Likely pathogenic
- Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/para
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.94
- AlphaMissense 0.84
- MetaLR 0.98
- MetaSVM 1.09
- CADD 29.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheoc)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the… (PMID 12213855)