G984R (p.Gly984Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G984R (p.Gly984Arg) 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 not provided; 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.
G984R (p.Gly984Arg) variant details
- p.Gly984Arg
- rs2153503630
- ClinGen CA349844710
- ClinVar RCV005094742
- ClinVar RCV005603725
- Likely pathogenic
- not provided; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (not provided; Ehlers-Danlos syndrome, type 4)
- EBI: Likely pathogenic (in EDSVASC)
- UniProt: Likely pathogenic (in EDSVASC)
- 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)