R4L (p.Arg4Leu) variant of PTPN11 (Q06124)
R4L (p.Arg4Leu) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 12-112419122-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.43
- CADD 26.10
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available