E118G (p.Glu118Gly) variant of LAMB3 (Laminin subunit beta-3)
E118G (p.Glu118Gly) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E118G (p.Glu118Gly) variant details
- p.Glu118Gly
- gnomAD rs1349178674
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.12
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available