G8C (p.Gly8Cys) variant of TGFBR2 (TGF-beta receptor type-2)
G8C (p.Gly8Cys) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- Ensembl rs1697932804
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.45
- CADD 31.00
- PolyPhen-2 0.57
- SIFT 0.03
- Population evidence available
- Structural context available