E55G (p.Glu55Gly) variant of COL6A2 (Collagen alpha-2(VI) chain)
E55G (p.Glu55Gly) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E55G (p.Glu55Gly) variant details
- p.Glu55Gly
- gnomAD rs1290376046
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.74
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available