M62L (p.Met62Leu) variant of FLNB (Filamin-B)
M62L (p.Met62Leu) in FLNB (Filamin-B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M62L (p.Met62Leu) variant details
- p.Met62Leu
- 1000Genomes rs566615110
- ExAC rs566615110
- TOPMed rs566615110
- gnomAD rs566615110
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.70
- CADD 24.90
- PolyPhen-2 0.87
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0691