G516D (p.Gly516Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G516D (p.Gly516Asp) 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 Spondyloepimetaphyseal dysplasia, Strudwick type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G516D (p.Gly516Asp) variant details
- p.Gly516Asp
- rs121912888
- ClinGen CA250701
- ClinVar RCV000022481
- UniProt VAR 023926
- Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type)
- EBI: Pathogenic (in ACG2)
- UniProt: Pathogenic (in ACG2)
- Structural context available
- Cited in: Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. (PMID 15054848)
- Cited in: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients… (PMID 10745044)