R7L (p.Arg7Leu) variant of FLNA (Filamin-A)
R7L (p.Arg7Leu) 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 0.51 / 1. The record also includes population frequency data and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- ExAC rs781814342
- TOPMed rs781814342
- gnomAD rs781814342
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.44
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available