Q37L (p.Gln37Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
Q37L (p.Gln37Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
Q37L (p.Gln37Leu) variant details
- p.Gln37Leu
- rs1060500205
- ClinGen CA16610630
- cosmic curated COSV58582
- ClinVar RCV000459602
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.20
- MetaLR 0.44
- MetaSVM -0.22
- PolyPhen-2 0.99
- SIFT 0.08
- MutPred 0.42
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- 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)