D41N (p.Asp41Asn) variant of COL3A1 (Collagen alpha-1(III) chain)
D41N (p.Asp41Asn) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs794728035
- ClinGen CA10587524
- ClinVar RCV001207845
- ClinVar RCV002311115
- Uncertain significance
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.95
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.62
- 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 9e-07)
- 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)