H48L (p.His48Leu) variant of PTPN4 (P29074)
H48L (p.His48Leu) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H48L (p.His48Leu) variant details
- p.His48Leu
- gnomAD 2-119862540-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.39
- MetaSVM -0.38
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available