A18A (p.Ala18Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
A18A (p.Ala18Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 21-45981904-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.57
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available