L21W (p.Leu21Trp) variant of PTPN11 (Q06124)
L21W (p.Leu21Trp) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L21W (p.Leu21Trp) variant details
- p.Leu21Trp
- gnomAD 12-112446323-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.79
- MetaLR 0.85
- MetaSVM 0.91
- CADD 27.50
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available