L30V (p.Leu30Val) variant of FLNB (Filamin-B)
L30V (p.Leu30Val) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- ExAC rs776287368
- gnomAD rs776287368
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.91
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score 0.341