A3A (p.Ala3Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
A3A (p.Ala3Ala) 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.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs369561233
- gnomAD 21-45981859-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 10.60
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available
- Literature evidence available