G31R (p.Gly31Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G31R (p.Gly31Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- rs374537884
- ClinGen CA077075
- ClinVar RCV000634724
- ClinVar RCV001525097
- Conflicting interpretations
- not specified; Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.36
- MetaLR 0.28
- MetaSVM -0.43
- CADD 24.40
- PolyPhen-2 0.31
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not specified; Ehlers-Danlos syndrome, type 4; Familial thoracic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)