A4A (p.Ala4Ala) variant of TGFBR1 (TGF-beta receptor type-1)
A4A (p.Ala4Ala) in TGFBR1 (TGF-beta receptor type-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs1365442897
- gnomAD 9-99105217-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Literature evidence available