R23L (p.Arg23Leu) variant of LAMB3 (Laminin subunit beta-3)
R23L (p.Arg23Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- ESP rs139480015
- ExAC rs139480015
- TOPMed rs139480015
- gnomAD rs139480015
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.24
- CADD 20.80
- PolyPhen-2 0.40
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available