G507E (p.Gly507Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G507E (p.Gly507Glu) 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 0.91 / 1. The record also includes published literature and structural context.
G507E (p.Gly507Glu) variant details
- p.Gly507Glu
- rs868417981
- ClinGen CA384552404
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10047
- Likely pathogenic
- Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Achondrogenesis type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)