A19E (p.Ala19Glu) variant of TGFBR1 (TGF-beta receptor type-1)
A19E (p.Ala19Glu) in TGFBR1 (TGF-beta receptor type-1) 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 0.38 / 1. The record also includes population frequency data and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- TOPMed rs1217107691
- gnomAD rs1217107691
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.46
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available