C196Y (p.Cys196Tyr) variant of SDHB (P21912)
C196Y (p.Cys196Tyr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C196Y (p.Cys196Tyr) variant details
- p.Cys196Tyr
- rs876658367
- ClinGen CA10577672
- ClinVar RCV000220162
- ClinVar RCV000461924
- Pathogenic
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.94
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the Non-Finnish European population (allele frequency 5.4e-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)