I18I (p.Ile18Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
I18I (p.Ile18Ile) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I18I (p.Ile18Ile) variant details
- p.Ile18Ile
- gnomAD 21-46111530-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 3.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available