R113S (p.Arg113Ser) variant of LAMB3 (Laminin subunit beta-3)
R113S (p.Arg113Ser) 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 0.13 / 1. The record also includes population frequency data and structural context.
R113S (p.Arg113Ser) variant details
- p.Arg113Ser
- ESP rs199599061
- ExAC rs199599061
- TOPMed rs199599061
- gnomAD rs199599061
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.11
- CADD 13.10
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available