R38P (p.Arg38Pro) variant of SDHB (P21912)
R38P (p.Arg38Pro) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- rs143058777
- ClinGen CA338228263
- ClinVar RCV000817594
- ClinVar RCV003307536
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)