L16V (p.Leu16Val) variant of TGFBR2 (TGF-beta receptor type-2)
L16V (p.Leu16Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- TOPMed rs930359910
- gnomAD rs930359910
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.20
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.13
- Population evidence available
- Structural context available