R32S (p.Arg32Ser) variant of SDHAF2 (Q9NX18)
R32S (p.Arg32Ser) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma/paragang. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R32S (p.Arg32Ser) variant details
- p.Arg32Ser
- rs952830677
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10007
- ClinGen CA222877279
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma/paragang
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.06
- MetaLR 0.24
- MetaSVM -0.94
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Pheochrom)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- 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)