L17V (p.Leu17Val) variant of TGFBR1 (TGF-beta receptor type-1)
L17V (p.Leu17Val) 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.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD 9-99105254-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.14
- CADD 20.70
- PolyPhen-2 0.36
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available