G930S (p.Gly930Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G930S (p.Gly930Ser) 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; Spondyloperipheral dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G930S (p.Gly930Ser) variant details
- p.Gly930Ser
- rs886043540
- ClinGen CA384542340
- NCI-TCGA Cosmic COSV6152
- cosmic curated COSV61529
- Likely pathogenic
- not provided; Spondyloperipheral dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 0.90
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (not provided; Spondyloperipheral dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)