R9H (p.Arg9His) variant of TGFBR1 (TGF-beta receptor type-1)
R9H (p.Arg9His) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- gnomAD 9-99105231-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available