D69H (p.Asp69His) variant of COL3A1 (Collagen alpha-1(III) chain)
D69H (p.Asp69His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D69H (p.Asp69His) variant details
- p.Asp69His
- rs112714742
- ClinGen CA349847203
- ClinVar RCV004009898
- 1000Genomes rs112714742
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.36
- MetaLR 0.49
- MetaSVM -0.12
- CADD 28.10
- SIFT 0.03
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)