A40G (p.Ala40Gly) variant of COL3A1 (Collagen alpha-1(III) chain)
A40G (p.Ala40Gly) 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; Familial thoracic aortic aneurysm and aortic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- rs201380807
- ClinGen CA349846899
- ClinVar RCV001187824
- ClinVar RCV001862964
- Uncertain significance
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.11
- MetaLR 0.23
- MetaSVM -0.65
- CADD 19.70
- PolyPhen-2 0.15
- SIFT 0.48
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurys)
- 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)