A18A (p.Ala18Ala) variant of TGFBR1 (TGF-beta receptor type-1)
A18A (p.Ala18Ala) in TGFBR1 (TGF-beta receptor type-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 9-99105259-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available