S10W (p.Ser10Trp) variant of SDHAF2 (Q9NX18)
S10W (p.Ser10Trp) 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 0.34 / 1. The record also includes published literature and structural context.
S10W (p.Ser10Trp) variant details
- p.Ser10Trp
- rs1590759653
- ClinGen CA380680205
- ClinVar RCV003181765
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.32
- MutPred 0.31
- 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)