E118D (p.Glu118Asp) variant of LAMB3 (Laminin subunit beta-3)
E118D (p.Glu118Asp) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E118D (p.Glu118Asp) variant details
- p.Glu118Asp
- gnomAD rs1278984475
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.15
- CADD 7.71
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available