G489W (p.Gly489Trp) variant of COL3A1 (Collagen alpha-1(III) chain)
G489W (p.Gly489Trp) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G489W (p.Gly489Trp) variant details
- p.Gly489Trp
- rs1688274473
- ClinGen CA349851988
- ClinVar RCV001196008
- Ensembl rs1688274473
- Likely pathogenic
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Polymicrogyria with or without vascular-type Ehlers-Danlos syndr)
- EBI: Likely pathogenic (in EDSVASC)
- UniProt: Likely pathogenic (in EDSVASC)
- Structural context available