M1K (p.Met1Lys) variant of SDHA (P31040)
M1K (p.Met1Lys) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs750380279
- ClinGen CA3172675
- ClinVar RCV000706101
- ClinVar RCV002440542
- Pathogenic
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- MetaLR 0.20
- MetaSVM -0.70
- PolyPhen-2 0.32
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)