D11E (p.Asp11Glu) variant of FLNB (Filamin-B)
D11E (p.Asp11Glu) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D11E (p.Asp11Glu) variant details
- p.Asp11Glu
- TOPMed rs2097093756
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.74
- CADD 26.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score 0.0851