R5R (p.Arg5Arg) variant of NF1 (Neurofibromin)
R5R (p.Arg5Arg) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 17-31095322-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available