T17P (p.Thr17Pro) variant of SDHB (P21912)
T17P (p.Thr17Pro) in SDHB (P21912) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T17P (p.Thr17Pro) variant details
- p.Thr17Pro
- TOPMed rs1060503756
- gnomAD rs1060503756
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.30
- CADD 3.84
- PolyPhen-2 0.01
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available