G981S (p.Gly981Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G981S (p.Gly981Ser) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G981S (p.Gly981Ser) variant details
- p.Gly981Ser
- rs2136526515
- ClinGen CA384541366
- ClinVar RCV002273087
- UniProt VAR 017647
- Pathogenic
- Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.98
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Achondrogenesis type II)
- EBI: Pathogenic (in ACG2)
- UniProt: Pathogenic (in ACG2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (PMID 10797431)
- Cited in: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients… (PMID 10745044)