E29G (p.Glu29Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
E29G (p.Glu29Gly) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- gnomAD rs1908085706
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.70
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available