R33H (p.Arg33His) variant of SDHAF2 (Q9NX18)
R33H (p.Arg33His) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- rs777442412
- ClinGen CA059634
- ClinVar RCV000639349
- ClinVar RCV001579475
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.32
- AlphaMissense 0.17
- MetaLR 0.43
- MetaSVM -0.30
- CADD 22.60
- PolyPhen-2 0.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)