P29S (p.Pro29Ser) variant of LAMB3 (Laminin subunit beta-3)
P29S (p.Pro29Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- ExAC rs763767212
- TOPMed rs763767212
- gnomAD rs763767212
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.39
- CADD 23.70
- PolyPhen-2 0.91
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available