I53N (p.Ile53Asn) variant of COL5A2 (Collagen alpha-2(V) chain)
I53N (p.Ile53Asn) 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, 2; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I53N (p.Ile53Asn) variant details
- p.Ile53Asn
- rs1443765130
- ClinGen CA349868472
- ClinVar RCV001287497
- ClinVar RCV002235905
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.46
- CADD 29.20
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome,)
- 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: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)