S8C (p.Ser8Cys) variant of SDHB (P21912)
S8C (p.Ser8Cys) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S8C (p.Ser8Cys) variant details
- p.Ser8Cys
- ExAC rs199848267
- TOPMed rs199848267
- gnomAD rs199848267
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.69
- CADD 23.70
- PolyPhen-2 0.34
- SIFT 0.03
- ClinVar: Uncertain significance (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available