L18V (p.Leu18Val) variant of SDHA (P31040)
L18V (p.Leu18Val) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.43 / 1. The record also includes published literature and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs1553996372
- ClinGen CA359007420
- ClinVar RCV000572314
- ClinVar RCV001204645
- Conflicting interpretations
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.74
- PolyPhen-2 0.46
- SIFT 0.43
- MutPred 0.43
- ClinVar: Conflicting classifications of pathogenicity (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)