P8Q (p.Pro8Gln) variant of TGFBR1 (TGF-beta receptor type-1)
P8Q (p.Pro8Gln) 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.
P8Q (p.Pro8Gln) variant details
- p.Pro8Gln
- gnomAD 9-99105228-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.25
- CADD 17.90
- PolyPhen-2 0.09
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available