G1047S (p.Gly1047Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G1047S (p.Gly1047Ser) 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 Achondrogenesis type II; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G1047S (p.Gly1047Ser) variant details
- p.Gly1047Ser
- rs1555165245
- ClinGen CA384540546
- ClinVar RCV000507539
- ClinVar RCV001198649
- Likely pathogenic
- Achondrogenesis type II; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Achondrogenesis type II; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)