G465S (p.Gly465Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G465S (p.Gly465Ser) 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 0.97 / 1. The record also includes published literature and structural context.
G465S (p.Gly465Ser) variant details
- p.Gly465Ser
- rs1939445848
- ClinGen CA384553291
- ClinVar RCV001293715
- Ensembl rs1939445848
- Likely pathogenic
- Spondyloperipheral dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Spondyloperipheral dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)