R5R (p.Arg5Arg) variant of FKRP (Q9H9S5)
R5R (p.Arg5Arg) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- rs1221940943
- gnomAD 19-46755465-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 9.98
- Population evidence available
- Structural context available
- Literature evidence available