S10L (p.Ser10Leu) variant of SDHAF2 (Q9NX18)
S10L (p.Ser10Leu) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- rs1590759653
- ClinGen CA380680204
- NCI-TCGA Cosmic COSV5709
- cosmic curated COSV57098
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.24
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.88
- CADD 16.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)