G405R (p.Gly405Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G405R (p.Gly405Arg) 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 Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G405R (p.Gly405Arg) variant details
- p.Gly405Arg
- rs1688249384
- ClinGen CA349851366
- ClinVar RCV002856505
- ClinVar RCV006454287
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehl
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.99
- CADD 33.00
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without v)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)