R46* (p.Arg46Ter) variant of SDHB (P21912)
R46* (p.Arg46Ter) in SDHB (P21912) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PPGL4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R46* (p.Arg46Ter) variant details
- p.Arg46Ter
- rs74315370
- ClinGen CA015507
- NCI-TCGA Cosmic COSV6496
- ClinVar RCV000132150
- Pathogenic
- in PPGL4
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- CADD 39.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous… (PMID 32082649)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)