G666E (p.Gly666Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G666E (p.Gly666Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Kniest dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G666E (p.Gly666Glu) variant details
- p.Gly666Glu
- cosmic curated COSV61531
- ExAC rs774039842
- gnomAD rs774039842
- Pathogenic
- Kniest dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.93
- CADD 29.20
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Pathogenic (Kniest dysplasia)
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available