G492V (p.Gly492Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G492V (p.Gly492Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G492V (p.Gly492Val) variant details
- p.Gly492Val
- rs121912881
- ClinGen CA250684
- ClinVar RCV002509165
- UniProt VAR 001745
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in SEMDSTWK)
- UniProt: Pathogenic (in SEMDSTWK)
- Structural context available
- Cited in: Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (PMID 7550321)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)