V72L (p.Val72Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
V72L (p.Val72Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- ExAC rs755705390
- TOPMed rs755705390
- gnomAD rs755705390
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0687
- REVEL 0.06
- CADD 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available