G969S (p.Gly969Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G969S (p.Gly969Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Achondrogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G969S (p.Gly969Ser) variant details
- p.Gly969Ser
- rs121912878
- ClinGen CA250680
- ClinVar RCV000018915
- UniProt VAR 001754
- Pathogenic
- Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Achondrogenesis type II)
- EBI: Pathogenic (in ACG2)
- UniProt: Pathogenic (in ACG2)
- Structural context available
- Cited in: A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens… (PMID 7829510)
- Cited in: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients… (PMID 10745044)