P49S (p.Pro49Ser) variant of SDHB (P21912)
P49S (p.Pro49Ser) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- rs2078100145
- ClinGen CA338228020
- ClinVar RCV003794629
- ClinVar RCV004950688
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.83
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- 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 2.4e-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)