L12R (p.Leu12Arg) variant of TGFBR1 (TGF-beta receptor type-1)
L12R (p.Leu12Arg) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 9-99105240-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available