R49W (p.Arg49Trp) variant of FLNB (Filamin-B)
R49W (p.Arg49Trp) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R49W (p.Arg49Trp) variant details
- p.Arg49Trp
- Ensembl rs2097093895
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.85
- CADD 24.60
- PolyPhen-2 0.66
- SIFT 0.00
- 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 -0.445