F7S (p.Phe7Ser) variant of SDHAF2 (Q9NX18)
F7S (p.Phe7Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
F7S (p.Phe7Ser) variant details
- p.Phe7Ser
- rs1311192006
- ClinGen CA380680170
- ClinVar RCV003380337
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.16
- MetaLR 0.26
- MetaSVM -0.95
- PolyPhen-2 0.07
- SIFT 0.00
- MutPred 0.14
- 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)