R49R (p.Arg49Arg) variant of FLNB (Filamin-B)
R49R (p.Arg49Arg) in FLNB (Filamin-B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R49R (p.Arg49Arg) variant details
- p.Arg49Arg
- rs756170382
- gnomAD 3-58008711-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 15.80
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.445
- Literature evidence available