G1170S (p.Gly1170Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G1170S (p.Gly1170Ser) 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 Stickler syndrome, type I, nonsyndromic ocular; Namaqualand hip dysplasia; Legg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G1170S (p.Gly1170Ser) variant details
- p.Gly1170Ser
- rs121912891
- ClinGen CA127173
- NCI-TCGA Cosmic COSV6153
- cosmic curated COSV61533
- Pathogenic
- Stickler syndrome, type I, nonsyndromic ocular; Namaqualand hip dysplasia; Legg
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- REVEL 1.00
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.98
- CADD 28.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Stickler syndrome, type I, nonsyndromic ocular; Namaqualand hip)
- EBI: Pathogenic (in ANFH1 and LCPD)
- UniProt: Pathogenic (in ANFH1 and LCPD)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Type II collagen gene variants and inherited osteonecrosis of the femoral head. (PMID 15930420)
- Cited in: A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. (PMID 17394019)