L6F (p.Leu6Phe) variant of LAMB3 (Laminin subunit beta-3)
L6F (p.Leu6Phe) 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 0.16 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- cosmic curated COSV61918
- ESP rs113185295
- ExAC rs113185295
- TOPMed rs113185295
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.06
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available