R61P (p.Arg61Pro) variant of FLNB (Filamin-B)
R61P (p.Arg61Pro) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R61P (p.Arg61Pro) variant details
- p.Arg61Pro
- gnomAD 3-58008746-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.36
- CADD 23.00
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.817
- Literature evidence available