Q7R (p.Gln7Arg) variant of FKRP (Q9H9S5)
Q7R (p.Gln7Arg) in FKRP (Q9H9S5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- gnomAD 19-46755467-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available