G1041R (p.Gly1041Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G1041R (p.Gly1041Arg) 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 Familial aortopathy; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G1041R (p.Gly1041Arg) variant details
- p.Gly1041Arg
- rs1688586251
- ClinGen CA349845061
- ClinVar RCV001049776
- ClinVar RCV004689966
- Likely pathogenic
- Familial aortopathy; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Familial aortopathy; Ehlers-Danlos syndrome, type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)