H48Q (p.His48Gln) variant of PTPN4 (P29074)
H48Q (p.His48Gln) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H48Q (p.His48Gln) variant details
- p.His48Gln
- gnomAD 2-119862541-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.14
- MetaSVM -1.07
- CADD 15.11
- Population evidence available
- Structural context available
- Literature evidence available