H34R (p.His34Arg) variant of SDHA (P31040)
H34R (p.His34Arg) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H34R (p.His34Arg) variant details
- p.His34Arg
- rs757478250
- ClinGen CA3172717
- ClinVar RCV001009716
- ClinVar RCV001226605
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.25
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- 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)