A14S (p.Ala14Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
A14S (p.Ala14Ser) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- rs547373542
- ClinGen CA076453
- ClinVar RCV001183081
- ClinVar RCV004008349
- Uncertain significance
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.24
- AlphaMissense 0.12
- MetaLR 0.48
- MetaSVM -0.54
- CADD 18.50
- PolyPhen-2 0.38
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)