P37S (p.Pro37Ser) variant of SDHB (P21912)
P37S (p.Pro37Ser) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs761180960
- ClinGen CA18610390
- ClinVar RCV001341003
- ClinVar RCV004005169
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.51
- AlphaMissense 0.11
- MetaLR 0.83
- MetaSVM 0.46
- CADD 21.60
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-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)