P197R (p.Pro197Arg) variant of SDHB (P21912)
P197R (p.Pro197Arg) 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; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
P197R (p.Pro197Arg) variant details
- p.Pro197Arg
- rs74315367
- ClinGen CA016001
- ClinVar RCV000013617
- ClinVar RCV000030623
- Pathogenic/Likely pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- REVEL 0.99
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- CADD 29.60
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Cited in: Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to… (PMID 11404820)
- Cited in: Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma… (PMID 14974914)