E27G (p.Glu27Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
E27G (p.Glu27Gly) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. 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.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- TOPMed rs1396488676
- gnomAD rs1396488676
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.25
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available