P11Q (p.Pro11Gln) variant of TGFBR2 (TGF-beta receptor type-2)
P11Q (p.Pro11Gln) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P11Q (p.Pro11Gln) variant details
- p.Pro11Gln
- gnomAD 3-30606915-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.31
- CADD 24.20
- PolyPhen-2 0.48
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available