R24W (p.Arg24Trp) variant of FLNB (Filamin-B)
R24W (p.Arg24Trp) 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.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs1195118329
- gnomAD 3-58078504-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0882
- CADD 1.06
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.511
- Literature evidence available