R96C (p.Arg96Cys) variant of FLNA (Filamin-A)
R96C (p.Arg96Cys) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R96C (p.Arg96Cys) variant details
- p.Arg96Cys
- gnomAD X-154348685-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 11.00
- Population evidence available
- Structural context available
- Literature evidence available