P25Q (p.Pro25Gln) variant of TGFBR2 (TGF-beta receptor type-2)
P25Q (p.Pro25Gln) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- gnomAD 3-30606957-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.43
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available