Q23Q (p.Gln23Gln) variant of COL1A2 (Collagen alpha-2(I) chain)
Q23Q (p.Gln23Gln) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q23Q (p.Gln23Gln) variant details
- p.Gln23Gln
- rs770754442
- gnomAD 7-94395100-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 19.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available