R7S (p.Arg7Ser) variant of TGFBR2 (TGF-beta receptor type-2)
R7S (p.Arg7Ser) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD 3-30606904-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available