L6I (p.Leu6Ile) variant of TGFBR2 (TGF-beta receptor type-2)
L6I (p.Leu6Ile) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L6I (p.Leu6Ile) variant details
- p.Leu6Ile
- gnomAD 3-30606899-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available