R4W (p.Arg4Trp) variant of PTPN11 (Q06124)
R4W (p.Arg4Trp) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- TOPMed rs886041517
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.77
- MetaLR 0.91
- MetaSVM 1.00
- CADD 31.00
- PolyPhen-2 0.69
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available