G8G (p.Gly8Gly) variant of COL3A1 (Collagen alpha-1(III) chain)
G8G (p.Gly8Gly) in COL3A1 (Collagen alpha-1(III) 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.
G8G (p.Gly8Gly) variant details
- p.Gly8Gly
- gnomAD 2-188974513-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 12.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available