R554L (p.Arg554Leu) variant of SDHA (P31040)
R554L (p.Arg554Leu) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R554L (p.Arg554Leu) variant details
- p.Arg554Leu
- rs376391115
- ClinGen CA358999000
- ClinVar RCV001203540
- ClinVar RCV005732305
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- AlphaMissense 0.71
- MetaLR 0.63
- MetaSVM 0.39
- PolyPhen-2 0.05
- SIFT 0.01
- EVE 0.54
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Benign (in LS)
- UniProt: Benign (in LS)
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)