W17L (p.Trp17Leu) variant of TGFBR2 (TGF-beta receptor type-2)
W17L (p.Trp17Leu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
W17L (p.Trp17Leu) variant details
- p.Trp17Leu
- gnomAD 3-30606933-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.54
- CADD 29.10
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available