T18T (p.Thr18Thr) variant of TGFBR2 (TGF-beta receptor type-2)
T18T (p.Thr18Thr) in TGFBR2 (TGF-beta receptor type-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T18T (p.Thr18Thr) variant details
- p.Thr18Thr
- rs139456857
- gnomAD 3-30606937-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available