T71S (p.Thr71Ser) variant of FLNB (Filamin-B)
T71S (p.Thr71Ser) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FLNB-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T71S (p.Thr71Ser) variant details
- p.Thr71Ser
- rs1254928825
- ClinGen CA353413231
- ClinVar RCV001878094
- ClinVar RCV004538585
- Uncertain significance
- FLNB-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.33
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (FLNB-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.825
- Cited in: FLNB-Related Disorders. (PMID 20301736)