L15H (p.Leu15His) variant of TGFBR1 (TGF-beta receptor type-1)
L15H (p.Leu15His) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L15H (p.Leu15His) variant details
- p.Leu15His
- gnomAD 9-99105249-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available