E39E (p.Glu39Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
E39E (p.Glu39Glu) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E39E (p.Glu39Glu) variant details
- p.Glu39Glu
- rs1270122764
- gnomAD 21-46111980-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available