G47A (p.Gly47Ala) variant of SDHC (Q99643)
G47A (p.Gly47Ala) in SDHC (Q99643) 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 0.43 / 1. The record also includes published literature and structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- rs1571851599
- ClinGen CA343361187
- ClinVar RCV000794414
- ClinVar RCV004659205
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.10
- MetaLR 0.53
- MetaSVM -0.50
- PolyPhen-2 0.24
- SIFT 0.04
- EVE 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)