R64C (p.Arg64Cys) variant of FLNB (Filamin-B)
R64C (p.Arg64Cys) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- gnomAD 3-58008754-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.78
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0825
- Literature evidence available