L16Q (p.Leu16Gln) variant of TGFBR2 (TGF-beta receptor type-2)
L16Q (p.Leu16Gln) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L16Q (p.Leu16Gln) variant details
- p.Leu16Gln
- gnomAD 3-30606930-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.52
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available