R7Q (p.Arg7Gln) variant of FLNA (Filamin-A)
R7Q (p.Arg7Gln) in FLNA (Filamin-A) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- ExAC rs781814342
- TOPMed rs781814342
- gnomAD rs781814342
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.36
- CADD 22.10
- PolyPhen-2 0.11
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available