L13R (p.Leu13Arg) variant of TGFBR1 (TGF-beta receptor type-1)
L13R (p.Leu13Arg) in TGFBR1 (TGF-beta receptor type-1) 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.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD 9-99105243-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.44
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available