R39P (p.Arg39Pro) variant of LAMB3 (Laminin subunit beta-3)
R39P (p.Arg39Pro) 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 0.22 / 1. The record also includes population frequency data and structural context.
R39P (p.Arg39Pro) variant details
- p.Arg39Pro
- ESP rs146125956
- ExAC rs146125956
- TOPMed rs146125956
- gnomAD rs146125956
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.23
- CADD 17.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available