M38T (p.Met38Thr) variant of SDHC (Q99643)
M38T (p.Met38Thr) 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 0.75 / 1. The record also includes published literature and structural context.
M38T (p.Met38Thr) variant details
- p.Met38Thr
- rs1671147353
- ClinGen CA343361013
- ClinVar RCV001247507
- Ensembl rs1671147353
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.75
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.12
- EVE 0.28
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- 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)