L7V (p.Leu7Val) variant of SDHA (P31040)
L7V (p.Leu7Val) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 published literature and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- rs760964443
- ClinGen CA359007289
- ClinVar RCV001039293
- ClinVar RCV004669196
- Conflicting interpretations
- Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.72
- MutPred 0.24
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex)
- EBI: Likely benign
- UniProt: Likely benign
- 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)