L25F (p.Leu25Phe) variant of SDHAF2 (Q9NX18)
L25F (p.Leu25Phe) 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. The record also includes published literature and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- rs2134892142
- ClinGen CA380682912
- ClinVar RCV003301602
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)