R96H (p.Arg96His) variant of FLNA (Filamin-A)
R96H (p.Arg96His) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R96H (p.Arg96His) variant details
- p.Arg96His
- rs1046110848
- gnomAD X-154348684-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 8.26
- Population evidence available
- Structural context available
- Literature evidence available