M13I (p.Met13Ile) variant of SDHAF2 (Q9NX18)
M13I (p.Met13Ile) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
M13I (p.Met13Ile) variant details
- p.Met13Ile
- rs2540123981
- ClinGen CA380682728
- ClinVar RCV003472633
- ClinVar RCV004364797
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.95
- CADD 8.61
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraga)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)