R42Q (p.Arg42Gln) variant of LAMB3 (Laminin subunit beta-3)
R42Q (p.Arg42Gln) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- rs761173046
- ClinGen CA1376096
- ClinVar RCV002596212
- ExAC rs761173046
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.14
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available