R61S (p.Arg61Ser) variant of FLNB (Filamin-B)
R61S (p.Arg61Ser) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R61S (p.Arg61Ser) variant details
- p.Arg61Ser
- gnomAD 3-58008745-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.38
- CADD 24.80
- PolyPhen-2 0.21
- 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 -0.817
- Literature evidence available