L27P (p.Leu27Pro) variant of TGFBR1 (TGF-beta receptor type-1)
L27P (p.Leu27Pro) 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.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 9-99105285-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.43
- CADD 21.30
- PolyPhen-2 0.04
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available