G16G (p.Gly16Gly) variant of COL6A2 (Collagen alpha-2(VI) chain)
G16G (p.Gly16Gly) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G16G (p.Gly16Gly) variant details
- p.Gly16Gly
- rs975122039
- gnomAD 21-46111524-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 4.92
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available