A16V (p.Ala16Val) variant of SDHC (Q99643)
A16V (p.Ala16Val) 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; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs1558164567
- ClinGen CA343359448
- ClinVar RCV000699024
- ClinVar RCV003472228
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.47
- MetaLR 0.70
- MetaSVM 0.22
- CADD 14.70
- SIFT 0.15
- 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 2.5e-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)