P103S (p.Pro103Ser) variant of LAMB3 (Laminin subunit beta-3)
P103S (p.Pro103Ser) 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 0.44 / 1. The record also includes population frequency data and structural context.
P103S (p.Pro103Ser) variant details
- p.Pro103Ser
- cosmic curated COSV61915
- 1000Genomes rs200105150
- ExAC rs200105150
- TOPMed rs200105150
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.60
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available