V5E (p.Val5Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
V5E (p.Val5Glu) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V5E (p.Val5Glu) variant details
- p.Val5Glu
- rs751315184
- ClinGen CA074376
- ClinVar RCV001911406
- ClinVar RCV003438891
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.70
- MetaLR 0.79
- MetaSVM 0.65
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)