L57R (p.Leu57Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
L57R (p.Leu57Arg) 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 0.56 / 1. The record also includes population frequency data and structural context.
L57R (p.Leu57Arg) variant details
- p.Leu57Arg
- ExAC rs759937318
- TOPMed rs759937318
- gnomAD rs759937318
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.60
- MetaLR 0.35
- MetaSVM -0.75
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available