R24K (p.Arg24Lys) variant of FLNB (Filamin-B)
R24K (p.Arg24Lys) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- gnomAD 3-58078508-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 5.89
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.511
- Literature evidence available