T23I (p.Thr23Ile) variant of FLNB (Filamin-B)
T23I (p.Thr23Ile) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- gnomAD 3-58008632-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.95
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- 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 -1.11
- Literature evidence available