L28M (p.Leu28Met) variant of COL5A1 (Collagen alpha-1(V) chain)
L28M (p.Leu28Met) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- rs1312200383
- ClinGen CA375443987
- ClinVar RCV001553163
- ClinVar RCV001860394
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.40
- CADD 26.10
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)