M1R (p.Met1Arg) variant of SDHA (P31040)
M1R (p.Met1Arg) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs750380279
- ClinGen CA16618195
- ClinVar RCV000478025
- ClinVar RCV000649438
- Pathogenic/Likely pathogenic
- Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic a
- 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/Likely pathogenic (Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and la)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)