N34S (p.Asn34Ser) variant of FLNB (Filamin-B)
N34S (p.Asn34Ser) 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 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- rs1481548213
- ClinGen CA353412996
- ClinVar RCV003844112
- TOPMed rs1481548213
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.58
- CADD 23.20
- PolyPhen-2 0.95
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.211