E55E (p.Glu55Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
E55E (p.Glu55Glu) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E55E (p.Glu55Glu) variant details
- p.Glu55Glu
- rs539657611
- gnomAD 21-46112028-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 12.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available