R24Q (p.Arg24Gln) variant of FLNB (Filamin-B)
R24Q (p.Arg24Gln) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- rs544099876
- gnomAD 3-58078505-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0872
- CADD 0.93
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.511
- Literature evidence available