R9C (p.Arg9Cys) variant of TGFBR1 (TGF-beta receptor type-1)
R9C (p.Arg9Cys) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- Ensembl rs1826370885
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.05
- Population evidence available
- Structural context available