R39W (p.Arg39Trp) variant of LAMB3 (Laminin subunit beta-3)
R39W (p.Arg39Trp) 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 0.46 / 1. The record also includes population frequency data and structural context.
R39W (p.Arg39Trp) variant details
- p.Arg39Trp
- ExAC rs759900167
- TOPMed rs759900167
- gnomAD rs759900167
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.22
- CADD 29.40
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available