G96S (p.Gly96Ser) variant of SDHB (P21912)
G96S (p.Gly96Ser) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inherited phaeochromocytoma and paraganglioma excluding NF1; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G96S (p.Gly96Ser) variant details
- p.Gly96Ser
- rs587782243
- ClinGen CA015701
- ClinVar RCV000130946
- ClinVar RCV000459169
- Pathogenic/Likely pathogenic
- Inherited phaeochromocytoma and paraganglioma excluding NF1; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- CADD 35.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inherited phaeochromocytoma and paraganglioma excluding NF1; Gas)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)