Q19E (p.Gln19Glu) variant of LAMB3 (Laminin subunit beta-3)
Q19E (p.Gln19Glu) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q19E (p.Gln19Glu) variant details
- p.Gln19Glu
- 1000Genomes rs200672750
- ExAC rs200672750
- TOPMed rs200672750
- gnomAD rs200672750
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.04
- CADD 16.80
- PolyPhen-2 0.03
- SIFT 0.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available