R116C (p.Arg116Cys) variant of FLNA (Filamin-A)
R116C (p.Arg116Cys) in FLNA (Filamin-A) 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 and structural context.
R116C (p.Arg116Cys) variant details
- p.Arg116Cys
- ExAC rs782298805
- gnomAD rs782298805
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.66
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available