R554W (p.Arg554Trp) variant of SDHA (P31040)
R554W (p.Arg554Trp) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R554W (p.Arg554Trp) variant details
- p.Arg554Trp
- rs9809219
- ClinGen CA119879
- NCI-TCGA Cosmic COSV5377
- cosmic curated COSV53770
- Likely pathogenic
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.80
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Pathogenic (in LS)
- UniProt: Pathogenic (in LS)
- Most common in the Middle Eastern population (allele frequency 0.00048)
- Structural context available
- Cited in: Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome. (PMID 1492653)
- Cited in: Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. (PMID 7550341)