R81P (p.Arg81Pro) variant of LAMB3 (Laminin subunit beta-3)
R81P (p.Arg81Pro) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R81P (p.Arg81Pro) variant details
- p.Arg81Pro
- rs978039540
- ClinGen CA344597776
- ClinVar RCV001844470
- TOPMed rs978039540
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.57
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available