H27R (p.His27Arg) variant of TGFBR2 (TGF-beta receptor type-2)
H27R (p.His27Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H27R (p.His27Arg) variant details
- p.His27Arg
- gnomAD 3-30606963-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available