M47V (p.Met47Val) variant of SDHAF2 (Q9NX18)
M47V (p.Met47Val) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
M47V (p.Met47Val) variant details
- p.Met47Val
- rs111402137
- ClinGen CA057795
- ClinVar RCV000566506
- ClinVar RCV000703323
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.22
- AlphaMissense 0.06
- MetaLR 0.28
- MetaSVM -0.83
- CADD 1.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)