P29T (p.Pro29Thr) variant of TGFBR1 (TGF-beta receptor type-1)
P29T (p.Pro29Thr) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- gnomAD 9-99105290-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available