I127L (p.Ile127Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
I127L (p.Ile127Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I127L (p.Ile127Leu) variant details
- p.Ile127Leu
- rs1064795177
- ClinGen CA349863960
- ClinVar RCV002232899
- ClinVar RCV005801861
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.43
- CADD 22.60
- PolyPhen-2 0.77
- SIFT 0.65
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aorti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)