C57Y (p.Cys57Tyr) variant of COL2A1 (Collagen alpha-1(II) chain)
C57Y (p.Cys57Tyr) 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. 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.
C57Y (p.Cys57Tyr) variant details
- p.Cys57Tyr
- rs121912898
- ClinGen CA127185
- ClinVar RCV000018946
- UniProt VAR 063891
- Pathogenic
- Stickler syndrome, type I, nonsyndromic ocular
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Stickler syndrome, type I, nonsyndromic ocular)
- EBI: Pathogenic (in STL1O)
- UniProt: Pathogenic (in STL1O)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler… (PMID 17721977)
- Cited in: High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment… (PMID 16752401)