P29Q (p.Pro29Gln) variant of TGFBR1 (TGF-beta receptor type-1)
P29Q (p.Pro29Gln) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- gnomAD 9-99105291-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.17
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available