R5I (p.Arg5Ile) variant of PTPN11 (Q06124)
R5I (p.Arg5Ile) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R5I (p.Arg5Ile) variant details
- p.Arg5Ile
- gnomAD 12-112419125-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.82
- CADD 47.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available