L4P (p.Leu4Pro) variant of COL2A1 (Collagen alpha-1(II) chain)
L4P (p.Leu4Pro) in COL2A1 (Collagen alpha-1(II) chain) 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 0.46 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs1335702587
- ClinGen CA384528450
- ClinVar RCV001240505
- TOPMed rs1335702587
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.46
- CADD 24.70
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available