E33G (p.Glu33Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
E33G (p.Glu33Gly) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- TOPMed rs1908084003
- gnomAD rs1908084003
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available