V16E (p.Val16Glu) variant of TGFBR1 (TGF-beta receptor type-1)
V16E (p.Val16Glu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V16E (p.Val16Glu) variant details
- p.Val16Glu
- gnomAD 9-99105252-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.49
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available