R113G (p.Arg113Gly) variant of LAMB3 (Laminin subunit beta-3)
R113G (p.Arg113Gly) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R113G (p.Arg113Gly) variant details
- p.Arg113Gly
- ESP rs371231587
- ExAC rs371231587
- TOPMed rs371231587
- gnomAD rs371231587
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available