R989C (p.Arg989Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
R989C (p.Arg989Cys) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R989C (p.Arg989Cys) variant details
- p.Arg989Cys
- rs121912874
- ClinGen CA250676
- NCI-TCGA Cosmic COSV6153
- cosmic curated COSV61536
- Likely benign
- Stickler syndrome, type I, nonsyndromic ocular; Namaqualand hip dysplasia; Legg
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Pathogenic (in SEDC)
- UniProt: Pathogenic (in SEDC)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal… (PMID 7752132)
- Cited in: Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with… (PMID 8325895)