E10A (p.Glu10Ala) variant of FLNB (Filamin-B)
E10A (p.Glu10Ala) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E10A (p.Glu10Ala) variant details
- p.Glu10Ala
- TOPMed rs888581942
- gnomAD rs888581942
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.69
- CADD 25.50
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.23