A4A (p.Ala4Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
A4A (p.Ala4Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- gnomAD 21-45981862-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 9.57
- Population evidence available
- Structural context available
- Literature evidence available