L14I (p.Leu14Ile) variant of TGFBR1 (TGF-beta receptor type-1)
L14I (p.Leu14Ile) 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.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- gnomAD 9-99105245-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.08
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available