L40V (p.Leu40Val) variant of FLNB (Filamin-B)
L40V (p.Leu40Val) in FLNB (Filamin-B) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- ExAC rs751263946
- TOPMed rs751263946
- gnomAD rs751263946
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.92
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.225