A19A (p.Ala19Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
A19A (p.Ala19Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- gnomAD 21-45981907-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0901
- CADD 1.34
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available