E28K (p.Glu28Lys) variant of FLNB (Filamin-B)
E28K (p.Glu28Lys) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- gnomAD 3-58008646-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.407
- Literature evidence available