G861D (p.Gly861Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G861D (p.Gly861Asp) 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 Inborn genetic diseases; Fetal anomalies with a likely genetic cause. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G861D (p.Gly861Asp) variant details
- p.Gly861Asp
- rs1209546147
- ClinGen CA384544420
- ClinVar RCV005251153
- gnomAD rs1209546147
- Likely pathogenic
- Inborn genetic diseases; Fetal anomalies with a likely genetic cause
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Inborn genetic diseases; Fetal anomalies with a likely genetic c)
- EBI: Pathogenic (in SMDALG)
- UniProt: Pathogenic (in SMDALG)
- Structural context available