E29E (p.Glu29Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
E29E (p.Glu29Glu) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E29E (p.Glu29Glu) variant details
- p.Glu29Glu
- gnomAD 2-188984767-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.095
- CADD 2.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available