A36T (p.Ala36Thr) variant of SDHB (P21912)
A36T (p.Ala36Thr) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs1204932232
- ClinGen CA338228306
- ClinVar RCV002411034
- gnomAD rs1204932232
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.41
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)