G9R (p.Gly9Arg) variant of FLNA (Filamin-A)
G9R (p.Gly9Arg) in FLNA (Filamin-A) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- ExAC rs782292045
- gnomAD rs782292045
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.21
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available