A28A (p.Ala28Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
A28A (p.Ala28Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- gnomAD 21-45981934-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 5.41
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available