L11I (p.Leu11Ile) variant of COL5A2 (Collagen alpha-2(V) chain)
L11I (p.Leu11Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- rs1576577162
- ClinGen CA349986303
- ClinVar RCV002234353
- TOPMed rs1576577162
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.26
- CADD 21.00
- PolyPhen-2 0.07
- SIFT 0.52
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- 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: Classic Ehlers-Danlos Syndrome. (PMID 20301422)