K15E (p.Lys15Glu) variant of FLNB (Filamin-B)
K15E (p.Lys15Glu) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- gnomAD 3-58008607-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.034
- Literature evidence available