P11T (p.Pro11Thr) variant of TGFBR2 (TGF-beta receptor type-2)
P11T (p.Pro11Thr) 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 0.46 / 1. The record also includes population frequency data and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- TOPMed rs1201208132
- gnomAD rs1201208132
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available