E2A (p.Glu2Ala) variant of TGFBR1 (TGF-beta receptor type-1)
E2A (p.Glu2Ala) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- gnomAD 9-99105210-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available