P14S (p.Pro14Ser) variant of SDHB (P21912)
P14S (p.Pro14Ser) 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; Pheochromocytoma; Pheochromocytoma/para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- rs2101551766
- ClinGen CA338230760
- ClinVar RCV002756411
- Ensembl rs2101551766
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.29
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)