P8T (p.Pro8Thr) variant of TGFBR1 (TGF-beta receptor type-1)
P8T (p.Pro8Thr) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 9-99105227-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.26
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available