G30G (p.Gly30Gly) variant of COL3A1 (Collagen alpha-1(III) chain)
G30G (p.Gly30Gly) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- rs753517892
- gnomAD 2-188984770-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 11.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available