S8T (p.Ser8Thr) variant of SDHB (P21912)
S8T (p.Ser8Thr) 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 0.52 / 1. The record also includes population frequency data and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- ExAC rs777447369
- gnomAD rs777447369
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.49
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available