T33M (p.Thr33Met) variant of SDHC (Q99643)
T33M (p.Thr33Met) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T33M (p.Thr33Met) variant details
- p.Thr33Met
- rs148566767
- ClinGen CA048701
- NCI-TCGA Cosmic COSV1044
- ClinVar RCV000459835
- Conflicting interpretations
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.56
- AlphaMissense 0.23
- MetaLR 0.92
- MetaSVM 1.01
- CADD 25.70
- PolyPhen-2 0.89
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)