R5G (p.Arg5Gly) variant of PTPN11 (Q06124)
R5G (p.Arg5Gly) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- Ensembl rs587781133
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.56
- MetaLR 0.79
- MetaSVM 0.60
- CADD 35.00
- PolyPhen-2 0.38
- SIFT 0.02
- Population evidence available
- Structural context available