R64L (p.Arg64Leu) variant of FLNB (Filamin-B)
R64L (p.Arg64Leu) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R64L (p.Arg64Leu) variant details
- p.Arg64Leu
- ExAC rs759185725
- gnomAD rs759185725
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.87
- CADD 26.10
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0825