H48Y (p.His48Tyr) variant of PTPN4 (P29074)
H48Y (p.His48Tyr) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- gnomAD 2-119862539-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM -0.00
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available