S48L (p.Ser48Leu) variant of SDHC (Q99643)
S48L (p.Ser48Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- rs1362354860
- ClinGen CA343361202
- NCI-TCGA Cosmic COSV6136
- cosmic curated COSV61369
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- AlphaMissense 0.07
- MetaLR 0.50
- MetaSVM -0.50
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.05
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stro)
- 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)