D63N (p.Asp63Asn) variant of COL3A1 (Collagen alpha-1(III) chain)
D63N (p.Asp63Asn) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D63N (p.Asp63Asn) variant details
- p.Asp63Asn
- rs1688031625
- ClinGen CA349847138
- NCI-TCGA Cosmic COSV5858
- cosmic curated COSV58587
- Uncertain significance
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.48
- MetaLR 0.58
- MetaSVM 0.25
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)