R2R (p.Arg2Arg) variant of FKRP (Q9H9S5)
R2R (p.Arg2Arg) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R2R (p.Arg2Arg) variant details
- p.Arg2Arg
- rs748272589
- gnomAD 19-46755454-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 10.30
- Population evidence available
- Structural context available
- Literature evidence available