L8I (p.Leu8Ile) variant of FLNB (Filamin-B)
L8I (p.Leu8Ile) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L8I (p.Leu8Ile) variant details
- p.Leu8Ile
- ESP rs376917060
- ExAC rs376917060
- gnomAD rs376917060
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.74
- CADD 24.90
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.315