L14V (p.Leu14Val) variant of TGFBR1 (TGF-beta receptor type-1)
L14V (p.Leu14Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 9-99105245-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.09
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available