R67R (p.Arg67Arg) variant of FHL1 (Q13642)
R67R (p.Arg67Arg) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R67R (p.Arg67Arg) variant details
- p.Arg67Arg
- rs143791173
- gnomAD X-136207036-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 13.80
- Most common in the 1KG:ESN population (allele frequency 0.014)
- Structural context available
- Literature evidence available