K60E (p.Lys60Glu) variant of FLNB (Filamin-B)
K60E (p.Lys60Glu) 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, and structural context.
K60E (p.Lys60Glu) variant details
- p.Lys60Glu
- gnomAD rs1291636394
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.154