Y66C (p.Tyr66Cys) variant of FLNB (Filamin-B)
Y66C (p.Tyr66Cys) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y66C (p.Tyr66Cys) variant details
- p.Tyr66Cys
- ExAC rs763897198
- gnomAD rs763897198
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.93
- 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 -0.319