D73H (p.Asp73His) variant of COL3A1 (Collagen alpha-1(III) chain)
D73H (p.Asp73His) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Ehlers-Danlos syndrome; not provided. 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.
D73H (p.Asp73His) variant details
- p.Asp73His
- rs200246388
- ClinGen CA075056
- cosmic curated COSV58594
- ClinVar RCV000264796
- Conflicting interpretations
- not specified; Ehlers-Danlos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.54
- MetaLR 0.49
- MetaSVM -0.08
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not specified; Ehlers-Danlos syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)