E48E (p.Glu48Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
E48E (p.Glu48Glu) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- rs1199014910
- gnomAD 2-188984824-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 12.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available