Q32Q (p.Gln32Gln) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q32Q (p.Gln32Gln) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q32Q (p.Gln32Gln) variant details
- p.Gln32Gln
- rs754988212
- gnomAD 21-45981946-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 8.89
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- Literature evidence available