M1I (p.Met1Ile) variant of SDHAF2 (Q9NX18)
M1I (p.Met1Ile) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1861835884
- ClinGen CA380680087
- ClinVar RCV001223536
- ClinVar RCV002375214
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- MetaLR 0.54
- MetaSVM -0.32
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.97
- ClinVar: Uncertain significance (not provided)
- 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)