G546S (p.Gly546Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G546S (p.Gly546Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Achondrogenesis type II; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G546S (p.Gly546Ser) variant details
- p.Gly546Ser
- rs886044555
- ClinGen CA10606903
- cosmic curated COSV10967
- ClinVar RCV000489443
- Pathogenic/Likely pathogenic
- Achondrogenesis type II; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.81
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Achondrogenesis type II; Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)