G367R (p.Gly367Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G367R (p.Gly367Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, arthrochalasia type, 2; Ehlers-Danlos syndrome, classic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G367R (p.Gly367Arg) variant details
- p.Gly367Arg
- rs72656402
- ClinGen CA368221154
- ClinVar RCV002852812
- ClinVar RCV003989790
- Pathogenic
- Ehlers-Danlos syndrome, arthrochalasia type, 2; Ehlers-Danlos syndrome, classic
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, arthrochalasia type, 2; Ehlers-Danlos sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)