Y1391H (p.Tyr1391His) variant of COL2A1 (Collagen alpha-1(II) chain)
Y1391H (p.Tyr1391His) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
Y1391H (p.Tyr1391His) variant details
- p.Tyr1391His
- rs2136505595
- ClinGen CA384533712
- ClinVar RCV002249377
- Ensembl rs2136505595
- Pathogenic
- Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Stickler syndrome type 1)
- EBI: Pathogenic (in PLSD-T)
- UniProt: Pathogenic (in PLSD-T)
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)