E61K (p.Glu61Lys) variant of LAMB3 (Laminin subunit beta-3)
E61K (p.Glu61Lys) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- TOPMed rs765935706
- gnomAD rs765935706
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.47
- CADD 24.70
- PolyPhen-2 0.62
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available