I18S (p.Ile18Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
I18S (p.Ile18Ser) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I18S (p.Ile18Ser) variant details
- p.Ile18Ser
- gnomAD 21-46111525-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.194
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available