A17A (p.Ala17Ala) variant of COL6A2 (Collagen alpha-2(VI) chain)
A17A (p.Ala17Ala) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- rs2078397960
- gnomAD 21-46111527-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 3.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available