Q29K (p.Gln29Lys) variant of TGFBR2 (TGF-beta receptor type-2)
Q29K (p.Gln29Lys) in TGFBR2 (TGF-beta receptor type-2) 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.
Q29K (p.Gln29Lys) variant details
- p.Gln29Lys
- gnomAD 3-30606968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available