G1017D (p.Gly1017Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G1017D (p.Gly1017Asp) 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 0.97 / 1. The record also includes structural context.
G1017D (p.Gly1017Asp) variant details
- p.Gly1017Asp
- rs2136525107
- ClinGen CA384540805
- ClinVar RCV002278695
- Ensembl rs2136525107
- Likely pathogenic
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Connective tissue disorder)
- EBI: Likely pathogenic (in ACG2)
- UniProt: Likely pathogenic (in ACG2)
- Structural context available