K16E (p.Lys16Glu) variant of FLNB (Filamin-B)
K16E (p.Lys16Glu) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- gnomAD 3-58008610-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.67
- CADD 25.50
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0895
- Literature evidence available