R73P (p.Arg73Pro) variant of FLNB (Filamin-B)
R73P (p.Arg73Pro) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R73P (p.Arg73Pro) variant details
- p.Arg73Pro
- gnomAD 3-58008782-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.93
- CADD 33.00
- PolyPhen-2 0.74
- 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 -0.129
- Literature evidence available