G1005S (p.Gly1005Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G1005S (p.Gly1005Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Type 2 collagenopathy; Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G1005S (p.Gly1005Ser) variant details
- p.Gly1005Ser
- rs753342774
- ClinGen CA6534912
- ClinVar RCV000988820
- ClinVar RCV003558623
- Pathogenic/Likely pathogenic
- not provided; Type 2 collagenopathy; Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.99
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Type 2 collagenopathy; Stickler syndrome type 1)
- EBI: Pathogenic (in ACG2)
- UniProt: Pathogenic (in ACG2)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and… (PMID 7741714)
- Cited in: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients… (PMID 10745044)