R9del (p.Arg9del) variant of FLNB (Filamin-B)
R9del (p.Arg9del) 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.
R9del (p.Arg9del) variant details
- rs2097204668
- gnomAD 3-58078504-CGGA-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.0856
- CADD 0.70
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.511
- Literature evidence available