G444D (p.Gly444Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G444D (p.Gly444Asp) 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 Spondyloperipheral dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G444D (p.Gly444Asp) variant details
- p.Gly444Asp
- rs1939463507
- ClinGen CA384553842
- ClinVar RCV001375980
- Ensembl rs1939463507
- Likely pathogenic
- Spondyloperipheral dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Spondyloperipheral dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)