A21D (p.Ala21Asp) variant of SDHB (P21912)
A21D (p.Ala21Asp) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- rs2078163173
- ClinGen CA338230637
- ClinVar RCV004011812
- ClinVar RCV006276449
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.07
- MetaLR 0.85
- MetaSVM 0.55
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- 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)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)