P29L (p.Pro29Leu) variant of SDHC (Q99643)
P29L (p.Pro29Leu) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs1671145169
- ClinGen CA343360854
- cosmic curated COSV61368
- ClinVar RCV001208446
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.73
- MetaLR 0.90
- MetaSVM 0.95
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)