E15K (p.Glu15Lys) variant of PTPN11 (Q06124)
E15K (p.Glu15Lys) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- gnomAD 12-112446304-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.69
- MetaLR 0.70
- MetaSVM 0.40
- CADD 27.20
- PolyPhen-2 0.65
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available