T42A (p.Thr42Ala) variant of FLNB (Filamin-B)
T42A (p.Thr42Ala) 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 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- rs1198656971
- ClinGen CA353413046
- ClinVar RCV002815713
- TOPMed rs1198656971
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.45
- CADD 22.50
- ClinVar: Uncertain significance (not provided)
- 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 -0.511