H67Y (p.His67Tyr) variant of FLNB (Filamin-B)
H67Y (p.His67Tyr) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Larsen syndrome; Boomerang dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H67Y (p.His67Tyr) variant details
- p.His67Tyr
- rs751371914
- ClinGen CA2467473
- ClinVar RCV000714843
- ClinVar RCV000714844
- Uncertain significance
- Larsen syndrome; Boomerang dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.69
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Larsen syndrome; Boomerang dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.107
- Cited in: FLNB-Related Disorders. (PMID 20301736)