R7G (p.Arg7Gly) variant of TGFBR2 (TGF-beta receptor type-2)
R7G (p.Arg7Gly) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- gnomAD 3-30606902-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.25
- CADD 8.29
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available