I51V (p.Ile51Val) variant of FLNB (Filamin-B)
I51V (p.Ile51Val) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- rs1260817076
- ClinGen CA353413101
- ClinVar RCV003827318
- TOPMed rs1260817076
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.73
- CADD 27.90
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.576