K31R (p.Lys31Arg) variant of FLNB (Filamin-B)
K31R (p.Lys31Arg) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- ExAC rs759061129
- gnomAD rs759061129
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.43
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.07
- 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 -0.316