A6A (p.Ala6Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
A6A (p.Ala6Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- gnomAD 21-45981868-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available