G90S (p.Gly90Ser) variant of LAMB3 (Laminin subunit beta-3)
G90S (p.Gly90Ser) 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 0.51 / 1. The record also includes population frequency data and structural context.
G90S (p.Gly90Ser) variant details
- p.Gly90Ser
- ExAC rs775892223
- TOPMed rs775892223
- gnomAD rs775892223
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.66
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available