L40Q (p.Leu40Gln) variant of FLNB (Filamin-B)
L40Q (p.Leu40Gln) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L40Q (p.Leu40Gln) variant details
- p.Leu40Gln
- gnomAD 3-58008683-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.225
- Literature evidence available