S4C (p.Ser4Cys) variant of SDHAF2 (Q9NX18)
S4C (p.Ser4Cys) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma/paraganglioma sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- rs778449586
- ClinGen CA057758
- ClinVar RCV000801877
- ClinVar RCV001010273
- Conflicting interpretations
- Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma/paraganglioma sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.86
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma/)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)