Q37H (p.Gln37His) variant of COL3A1 (Collagen alpha-1(III) chain)
Q37H (p.Gln37His) 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 Ehlers-Danlos syndrome, type 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
Q37H (p.Gln37His) variant details
- p.Gln37His
- rs2153501346
- ClinGen CA349846874
- ClinVar RCV001811785
- ClinVar RCV003120695
- Uncertain significance
- Ehlers-Danlos syndrome, type 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.33
- MetaLR 0.45
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.37
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)