H34R (p.His34Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
H34R (p.His34Arg) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H34R (p.His34Arg) variant details
- p.His34Arg
- rs752110396
- ClinGen CA004024
- ClinVar RCV000181120
- ClinVar RCV000709845
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.31
- MetaLR 0.30
- MetaSVM -0.54
- CADD 21.80
- PolyPhen-2 0.13
- SIFT 0.65
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- 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)