L5P (p.Leu5Pro) variant of TGFBR2 (TGF-beta receptor type-2)
L5P (p.Leu5Pro) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD 3-30606897-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.60
- CADD 31.00
- PolyPhen-2 0.48
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available