E10K (p.Glu10Lys) variant of FLNB (Filamin-B)
E10K (p.Glu10Lys) 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, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- ExAC rs769055809
- TOPMed rs769055809
- gnomAD rs769055809
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.77
- CADD 27.10
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.9e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.23