A22A (p.Ala22Ala) variant of TGFBR1 (TGF-beta receptor type-1)
A22A (p.Ala22Ala) in TGFBR1 (TGF-beta receptor type-1) is a synonymous 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.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs1437415348
- gnomAD 9-99105271-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available