V16L (p.Val16Leu) variant of TGFBR1 (TGF-beta receptor type-1)
V16L (p.Val16Leu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- gnomAD 9-99105251-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.24
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available