L35I (p.Leu35Ile) variant of COL3A1 (Collagen alpha-1(III) chain)
L35I (p.Leu35Ile) 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; Ehlers-Danlos syndrome; Familial thoracic aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L35I (p.Leu35Ile) variant details
- p.Leu35Ile
- rs368703012
- ClinGen CA349846848
- ClinVar RCV001907873
- ClinVar RCV002276918
- Uncertain significance
- Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome; Familial thoracic aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.22
- MetaLR 0.28
- MetaSVM -0.48
- CADD 23.40
- PolyPhen-2 0.79
- SIFT 0.14
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)