L9Q (p.Leu9Gln) variant of TGFBR2 (TGF-beta receptor type-2)
L9Q (p.Leu9Gln) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- gnomAD 3-30606909-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.40
- CADD 25.30
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available