R15P (p.Arg15Pro) variant of SDHA (P31040)
R15P (p.Arg15Pro) 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 0.34 / 1. The record also includes published literature and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- rs1060503707
- ClinGen CA16611820
- ClinVar RCV000470530
- ClinVar RCV002255398
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.16
- MetaLR 0.20
- MetaSVM -0.95
- PolyPhen-2 0.05
- SIFT 0.17
- MutPred 0.63
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)