A3P (p.Ala3Pro) variant of SDHC (Q99643)
A3P (p.Ala3Pro) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- rs748243732
- ClinGen CA343354942
- ClinVar RCV003801143
- ClinVar RCV004661781
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.61
- MetaLR 0.91
- MetaSVM 1.00
- CADD 26.00
- PolyPhen-2 0.79
- SIFT 0.49
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)