R49L (p.Arg49Leu) variant of FLNB (Filamin-B)
R49L (p.Arg49Leu) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, 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 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R49L (p.Arg49Leu) variant details
- p.Arg49Leu
- rs1322262022
- ClinGen CA353413093
- ClinVar RCV004389455
- TOPMed rs1322262022
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.91
- CADD 32.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.445
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)