R61H (p.Arg61His) variant of FLNB (Filamin-B)
R61H (p.Arg61His) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R61H (p.Arg61His) variant details
- p.Arg61His
- ExAC rs770724869
- gnomAD rs770724869
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.26
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.817