T41A (p.Thr41Ala) variant of SDHAF2 (Q9NX18)
T41A (p.Thr41Ala) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T41A (p.Thr41Ala) variant details
- p.Thr41Ala
- rs1455092335
- ClinGen CA380683173
- ClinVar RCV001208813
- ClinVar RCV003294012
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.87
- CADD 6.39
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)