L12V (p.Leu12Val) variant of TGFBR1 (TGF-beta receptor type-1)
L12V (p.Leu12Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD 9-99105239-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.20
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available