L15I (p.Leu15Ile) variant of TGFBR1 (TGF-beta receptor type-1)
L15I (p.Leu15Ile) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- gnomAD 9-99105248-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.11
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available