S31T (p.Ser31Thr) variant of TGFBR2 (TGF-beta receptor type-2)
S31T (p.Ser31Thr) in TGFBR2 (TGF-beta receptor type-2) 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.
S31T (p.Ser31Thr) variant details
- p.Ser31Thr
- ExAC rs761400349
- TOPMed rs761400349
- gnomAD rs761400349
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.18
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available