G8E (p.Gly8Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
G8E (p.Gly8Glu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- rs2153500011
- ClinGen CA349845386
- NCI-TCGA Cosmic COSV5859
- cosmic curated COSV58597
- Uncertain significance
- not provided; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.48
- MetaLR 0.43
- MetaSVM -0.59
- CADD 17.10
- PolyPhen-2 0.04
- SIFT 0.67
- ClinVar: Uncertain significance (not provided; Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)