G1107E (p.Gly1107Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G1107E (p.Gly1107Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Achondrogenesis type II. 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.
G1107E (p.Gly1107Glu) variant details
- p.Gly1107Glu
- 1000Genomes rs544032562
- gnomAD rs544032562
- Likely pathogenic
- Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.98
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Achondrogenesis type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available