G540S (p.Gly540Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G540S (p.Gly540Ser) 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; Legg-Calve-Perthes disease; Kniest dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G540S (p.Gly540Ser) variant details
- p.Gly540Ser
- rs2136567996
- ClinGen CA384551630
- cosmic curated COSV61533
- ClinVar RCV002026787
- Likely pathogenic
- not provided; Legg-Calve-Perthes disease; Kniest dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.64
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (not provided; Legg-Calve-Perthes disease; Kniest dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Stickler Syndrome. (PMID 20301479)