H29Y (p.His29Tyr) variant of FLNB (Filamin-B)
H29Y (p.His29Tyr) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- gnomAD rs1235295927
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.84
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.491