K65R (p.Lys65Arg) variant of FLNB (Filamin-B)
K65R (p.Lys65Arg) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K65R (p.Lys65Arg) variant details
- p.Lys65Arg
- ExAC rs775339823
- TOPMed rs775339823
- gnomAD rs775339823
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.73
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- 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 -0.431