E652G (p.Glu652Gly) variant of COL2A1 (Collagen alpha-1(II) chain)
E652G (p.Glu652Gly) 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 Maffucci syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
E652G (p.Glu652Gly) variant details
- p.Glu652Gly
- rs2136556852
- ClinGen CA384548546
- ClinVar RCV002227902
- Ensembl rs2136556852
- Likely pathogenic
- Maffucci syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.51
- MetaLR 0.75
- MetaSVM 0.51
- PolyPhen-2 0.36
- SIFT 0.14
- EVE 0.27
- ClinVar: Likely pathogenic (Maffucci syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available