Q18P (p.Gln18Pro) variant of FLNB (Filamin-B)
Q18P (p.Gln18Pro) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q18P (p.Gln18Pro) variant details
- p.Gln18Pro
- gnomAD rs1244879124
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.94
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- 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 -0.337