R36L (p.Arg36Leu) variant of FLNB (Filamin-B)
R36L (p.Arg36Leu) 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; not provided. 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.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- rs142568031
- ClinGen CA2467455
- ClinVar RCV001888799
- ClinVar RCV002552923
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0476
- 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)