F48I (p.Phe48Ile) variant of LRBA (P50851)
F48I (p.Phe48Ile) in LRBA (P50851) 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 0.59 / 1. The record also includes population frequency data.
F48I (p.Phe48Ile) variant details
- p.Phe48Ile
- ESP rs374042410
- TOPMed rs374042410
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- MetaLR 0.44
- MetaSVM -0.12
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)