A49A (p.Ala49Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
A49A (p.Ala49Ala) 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.
A49A (p.Ala49Ala) variant details
- p.Ala49Ala
- rs1443671437
- gnomAD 21-45982683-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 11.80
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available