D84N (p.Asp84Asn) variant of COL5A2 (Collagen alpha-2(V) chain)
D84N (p.Asp84Asn) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D84N (p.Asp84Asn) variant details
- p.Asp84Asn
- rs745528957
- ClinGen CA349867743
- ClinVar RCV002233026
- ClinVar RCV002314278
- Conflicting interpretations
- not provided; Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.08
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Ehlers-Danlos syndrome, classic type, 1; Familial)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)