I14I (p.Ile14Ile) variant of TGFBR2 (TGF-beta receptor type-2)
I14I (p.Ile14Ile) in TGFBR2 (TGF-beta receptor type-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I14I (p.Ile14Ile) variant details
- p.Ile14Ile
- gnomAD 3-30606925-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 15.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available