G42E (p.Gly42Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G42E (p.Gly42Glu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.90 / 1. The record also includes population frequency data and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- rs762706669
- ClinGen CA4346493
- ClinVar RCV003884255
- ExAC rs762706669
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.96
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available