G1026D (p.Gly1026Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G1026D (p.Gly1026Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Achondrogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G1026D (p.Gly1026Asp) variant details
- p.Gly1026Asp
- rs1555165336
- ClinGen CA384540693
- ClinVar RCV003485995
- Pathogenic
- Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.88
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Achondrogenesis type II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)