L57I (p.Leu57Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
L57I (p.Leu57Ile) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L57I (p.Leu57Ile) variant details
- p.Leu57Ile
- ExAC rs765665120
- TOPMed rs765665120
- gnomAD rs765665120
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.48
- MetaLR 0.55
- MetaSVM -0.30
- CADD 23.50
- PolyPhen-2 0.87
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available