Y63H (p.Tyr63His) variant of FLNB (Filamin-B)
Y63H (p.Tyr63His) 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; FLNB-Related Spectrum Disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y63H (p.Tyr63His) variant details
- p.Tyr63His
- rs1378933541
- ClinGen CA353413179
- ClinVar RCV001145589
- ClinVar RCV002298874
- Uncertain significance
- not provided; FLNB-Related Spectrum Disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.55
- CADD 23.40
- ClinVar: Uncertain significance (not provided; FLNB-Related Spectrum Disorders)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0574