T2K (p.Thr2Lys) variant of PTPN11 (Q06124)
T2K (p.Thr2Lys) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T2K (p.Thr2Lys) variant details
- p.Thr2Lys
- gnomAD 12-112419116-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.15
- CADD 24.50
- PolyPhen-2 0.05
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available