L17P (p.Leu17Pro) variant of TGFBR1 (TGF-beta receptor type-1)
L17P (p.Leu17Pro) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- rs2118164469
- ClinGen CA374223590
- ClinVar RCV003128935
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.56
- AlphaMissense 0.29
- MetaLR 0.42
- MetaSVM -0.56
- CADD 23.90
- PolyPhen-2 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available