Q76H (p.Gln76His) variant of FLNB (Filamin-B)
Q76H (p.Gln76His) 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 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q76H (p.Gln76His) variant details
- p.Gln76His
- rs2477194997
- ClinGen CA353413271
- ClinVar RCV003685673
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.72
- CADD 28.60
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.177