G546V (p.Gly546Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G546V (p.Gly546Val) 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 Achondrogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G546V (p.Gly546Val) variant details
- p.Gly546Val
- rs121912899
- ClinGen CA250704
- ClinVar RCV000022483
- Ensembl rs121912899
- Pathogenic
- Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Achondrogenesis type II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic… (PMID 17994563)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)