T35I (p.Thr35Ile) variant of SDHB (P21912)
T35I (p.Thr35Ile) 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 0.46 / 1. The record also includes population frequency data and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- TOPMed rs1331420052
- gnomAD rs1331420052
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.33
- CADD 11.70
- 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 1.5e-05)
- Structural context available