D11G (p.Asp11Gly) variant of FLNB (Filamin-B)
D11G (p.Asp11Gly) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D11G (p.Asp11Gly) variant details
- p.Asp11Gly
- gnomAD 3-58008596-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.99
- 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 0.0851
- Literature evidence available