P8R (p.Pro8Arg) variant of TGFBR1 (TGF-beta receptor type-1)
P8R (p.Pro8Arg) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- gnomAD 9-99105228-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.21
- CADD 19.40
- PolyPhen-2 0.04
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available