G364C (p.Gly364Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G364C (p.Gly364Cys) 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 0.59 / 1. The record also includes published literature and structural context.
G364C (p.Gly364Cys) variant details
- p.Gly364Cys
- rs2136587685
- ClinGen CA384555339
- ClinVar RCV001787279
- Ensembl rs2136587685
- Likely pathogenic
- Spondyloperipheral dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.27
- MetaLR 0.79
- MetaSVM 0.77
- PolyPhen-2 0.57
- SIFT 0.00
- EVE 0.12
- ClinVar: Likely pathogenic (Spondyloperipheral dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)