E2V (p.Glu2Val) variant of TGFBR1 (TGF-beta receptor type-1)
E2V (p.Glu2Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- gnomAD 9-99105210-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available