R904C (p.Arg904Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
R904C (p.Arg904Cys) 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; Myopia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R904C (p.Arg904Cys) variant details
- p.Arg904Cys
- rs121912882
- ClinGen CA127163
- NCI-TCGA Cosmic COSV6152
- cosmic curated COSV61528
- Pathogenic
- Stickler syndrome; Myopia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.84
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic (Stickler syndrome; Myopia; not provided)
- EBI: Pathogenic (in EDMMD and STL1)
- UniProt: Pathogenic (in EDMMD and STL1)
- Population evidence available
- Structural context available
- Cited in: Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (PMID 20513134)
- Cited in: Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. (PMID 9800905)