H48R (p.His48Arg) variant of PTPN4 (P29074)
H48R (p.His48Arg) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H48R (p.His48Arg) variant details
- p.His48Arg
- Ensembl rs1677776194
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.28
- ESM-1b 0.38
- AlphaMissense 0.12
- MetaLR 0.18
- MetaSVM -0.87
- CADD 21.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available