M1L (p.Met1Leu) variant of SDHA (P31040)
M1L (p.Met1Leu) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Neurodegeneration with at. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1061517
- ClinGen CA119881
- ClinVar RCV000009283
- ClinVar RCV001233940
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Neurodegeneration with at
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- MetaLR 0.19
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Neurodege)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh… (PMID 10746566)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)