S2T (p.Ser2Thr) variant of SDHA (P31040)
S2T (p.Ser2Thr) in SDHA (P31040) 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 0.20 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- ExAC rs758327622
- gnomAD rs758327622
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.07
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.91
- CADD 20.30
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available