R5R (p.Arg5Arg) variant of PTPN11 (Q06124)
R5R (p.Arg5Arg) in PTPN11 (Q06124) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 12-112419124-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available