L28F (p.Leu28Phe) variant of TGFBR1 (TGF-beta receptor type-1)
L28F (p.Leu28Phe) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- gnomAD 9-99105287-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available