F114V (p.Phe114Val) variant of LAMB3 (Laminin subunit beta-3)
F114V (p.Phe114Val) 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 0.46 / 1. The record also includes population frequency data and structural context.
F114V (p.Phe114Val) variant details
- p.Phe114Val
- ESP rs372620941
- ExAC rs372620941
- TOPMed rs372620941
- gnomAD rs372620941
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.63
- CADD 23.00
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available