R31* (p.Arg31Ter) variant of SDHA (P31040)
R31* (p.Arg31Ter) in SDHA (P31040) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- rs142441643
- ClinGen CA168793
- cosmic curated COSV53768
- ClinVar RCV000131808
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00044)
- Structural context available
- Cited in: SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and… (PMID 21752896)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)