R93H (p.Arg93His) variant of LAMB3 (Laminin subunit beta-3)
R93H (p.Arg93His) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes population frequency data and structural context.
R93H (p.Arg93His) variant details
- p.Arg93His
- ExAC rs771977502
- TOPMed rs771977502
- gnomAD rs771977502
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.58
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available