E27Q (p.Glu27Gln) variant of COL1A2 (Collagen alpha-2(I) chain)
E27Q (p.Glu27Gln) in COL1A2 (Collagen alpha-2(I) 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 0.24 / 1. The record also includes population frequency data and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- TOPMed rs1383010138
- gnomAD rs1383010138
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.22
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available