R72C (p.Arg72Cys) variant of SDHC (Q99643)
R72C (p.Arg72Cys) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R72C (p.Arg72Cys) variant details
- p.Arg72Cys
- rs756676111
- ClinGen CA046528
- cosmic curated COSV10523
- ClinVar RCV000809817
- Pathogenic/Likely pathogenic
- Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/para
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.07
- CADD 25.60
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheoc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)