R61L (p.Arg61Leu) variant of FLNB (Filamin-B)
R61L (p.Arg61Leu) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R61L (p.Arg61Leu) variant details
- p.Arg61Leu
- ExAC rs770724869
- gnomAD rs770724869
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.29
- CADD 19.80
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.817