S20N (p.Ser20Asn) variant of SDHAF2 (Q9NX18)
S20N (p.Ser20Asn) 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. 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.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- rs2134892121
- ClinGen CA380682839
- ClinVar RCV003633837
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.20
- MetaLR 0.25
- MetaSVM -0.92
- CADD 3.60
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)