L8V (p.Leu8Val) variant of FLNB (Filamin-B)
L8V (p.Leu8Val) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD 3-58008586-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.80
- CADD 23.20
- PolyPhen-2 0.87
- 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 -0.315
- Literature evidence available