S4F (p.Ser4Phe) variant of SDHAF2 (Q9NX18)
S4F (p.Ser4Phe) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; not provided; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- rs778449586
- ClinGen CA222873825
- ClinVar RCV002011703
- ClinVar RCV004770370
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; not provided; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.22
- MetaLR 0.23
- MetaSVM -0.82
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; not provided; Her)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)