G69V (p.Gly69Val) variant of SDHB (P21912)
G69V (p.Gly69Val) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Paraganglioma; Hereditary cancer-predisposing syndrome; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G69V (p.Gly69Val) variant details
- p.Gly69Val
- rs2101529108
- ClinGen CA338276633
- ClinVar RCV002251307
- ClinVar RCV003774737
- Pathogenic/Likely pathogenic
- Paraganglioma; Hereditary cancer-predisposing syndrome; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Paraganglioma; Hereditary cancer-predisposing syndrome; Pheochro)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)