A18G (p.Ala18Gly) variant of TGFBR1 (TGF-beta receptor type-1)
A18G (p.Ala18Gly) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- gnomAD 9-99105258-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.18
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available