G519D (p.Gly519Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G519D (p.Gly519Asp) 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 Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G519D (p.Gly519Asp) variant details
- p.Gly519Asp
- rs1555167139
- ClinGen CA384552070
- ClinVar RCV000659393
- Ensembl rs1555167139
- Likely pathogenic
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.95
- ClinVar: Likely pathogenic (Connective tissue disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available