Q60L (p.Gln60Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q60L (p.Gln60Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q60L (p.Gln60Leu) variant details
- p.Gln60Leu
- ESP rs147892526
- ExAC rs147892526
- TOPMed rs147892526
- gnomAD rs147892526
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.79
- AlphaMissense 0.22
- MetaLR 0.66
- MetaSVM 0.39
- CADD 27.50
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available