A34T (p.Ala34Thr) variant of SDHB (P21912)
A34T (p.Ala34Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs2078100708
- ClinGen CA338228315
- ClinVar RCV002435482
- Ensembl rs2078100708
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- AlphaMissense 0.08
- MetaLR 0.85
- MetaSVM 0.55
- PolyPhen-2 0.00
- SIFT 0.21
- MutPred 0.34
- 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)