L57P (p.Leu57Pro) variant of FLNB (Filamin-B)
L57P (p.Leu57Pro) 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, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- TOPMed rs1306005428
- gnomAD rs1306005428
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.99
- CADD 33.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.104