L16L (p.Leu16Leu) variant of TGFBR2 (TGF-beta receptor type-2)
L16L (p.Leu16Leu) in TGFBR2 (TGF-beta receptor type-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- rs930359910
- gnomAD 3-30606929-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 14.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available