A6G (p.Ala6Gly) variant of TGFBR1 (TGF-beta receptor type-1)
A6G (p.Ala6Gly) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- gnomAD 9-99105222-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 0.36
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available