D43N (p.Asp43Asn) variant of FLNB (Filamin-B)
D43N (p.Asp43Asn) in FLNB (Filamin-B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- rs781324487
- NCI-TCGA Cosmic COSV5588
- cosmic curated COSV55888
- ExAC rs781324487
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- 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 -0.174