R3L (p.Arg3Leu) variant of TGFBR2 (TGF-beta receptor type-2)
R3L (p.Arg3Leu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- gnomAD 3-30606891-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.44
- CADD 25.50
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available