G31E (p.Gly31Glu) variant of LAMB3 (Laminin subunit beta-3)
G31E (p.Gly31Glu) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G31E (p.Gly31Glu) variant details
- p.Gly31Glu
- TOPMed rs901665561
- gnomAD rs901665561
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.69
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available