D46N (p.Asp46Asn) variant of FLNB (Filamin-B)
D46N (p.Asp46Asn) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- cosmic curated COSV10641
- TOPMed rs1171618218
- gnomAD rs1171618218
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.406