G1038E (p.Gly1038Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G1038E (p.Gly1038Glu) 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 0.98 / 1. The record also includes structural context.
G1038E (p.Gly1038Glu) variant details
- p.Gly1038Glu
- rs2136523042
- ClinGen CA384540594
- ClinVar RCV001596908
- Ensembl rs2136523042
- Likely pathogenic
- Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Achondrogenesis type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available