E2E (p.Glu2Glu) variant of TGFBR1 (TGF-beta receptor type-1)
E2E (p.Glu2Glu) in TGFBR1 (TGF-beta receptor type-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- gnomAD 9-99105211-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available