R554P (p.Arg554Pro) variant of SDHA (P31040)
R554P (p.Arg554Pro) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R554P (p.Arg554Pro) variant details
- p.Arg554Pro
- rs376391115
- ClinGen CA358998999
- ClinVar RCV003793370
- 1000Genomes rs376391115
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.84
- AlphaMissense 0.71
- MetaLR 0.63
- MetaSVM 0.39
- CADD 24.90
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Benign (in LS)
- UniProt: Benign (in LS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)