Q29Q (p.Gln29Gln) variant of TGFBR2 (TGF-beta receptor type-2)
Q29Q (p.Gln29Gln) in TGFBR2 (TGF-beta receptor type-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q29Q (p.Gln29Gln) variant details
- p.Gln29Gln
- rs1224678519
- gnomAD 3-30606970-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available