A20E (p.Ala20Glu) variant of TGFBR1 (TGF-beta receptor type-1)
A20E (p.Ala20Glu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- gnomAD 9-99105264-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.30
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available