G1146A (p.Gly1146Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G1146A (p.Gly1146Ala) 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 Type 2 collagenopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G1146A (p.Gly1146Ala) variant details
- p.Gly1146Ala
- rs1938719104
- ClinGen CA384537575
- ClinVar RCV006455645
- Likely pathogenic
- Type 2 collagenopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Type 2 collagenopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)