E61D (p.Glu61Asp) variant of LAMB3 (Laminin subunit beta-3)
E61D (p.Glu61Asp) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E61D (p.Glu61Asp) variant details
- p.Glu61Asp
- ExAC rs745623000
- TOPMed rs745623000
- gnomAD rs745623000
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.34
- CADD 34.00
- PolyPhen-2 0.61
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available