G8A (p.Gly8Ala) variant of TGFBR2 (TGF-beta receptor type-2)
G8A (p.Gly8Ala) in TGFBR2 (TGF-beta receptor type-2) is a protein-truncating 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.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- gnomAD 3-30606902-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 28.30
- Population evidence available
- Structural context available
- Literature evidence available