Q72E (p.Gln72Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q72E (p.Gln72Glu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q72E (p.Gln72Glu) variant details
- p.Gln72Glu
- ESP rs370975647
- ExAC rs370975647
- TOPMed rs370975647
- gnomAD rs370975647
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.17
- CADD 12.50
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available