R61G (p.Arg61Gly) variant of FLNB (Filamin-B)
R61G (p.Arg61Gly) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R61G (p.Arg61Gly) variant details
- p.Arg61Gly
- rs1241394741
- ClinGen CA353413166
- ClinVar RCV002623718
- gnomAD rs1241394741
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.51
- CADD 25.50
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.817