H48N (p.His48Asn) variant of PTPN4 (P29074)
H48N (p.His48Asn) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H48N (p.His48Asn) variant details
- p.His48Asn
- gnomAD rs1427493573
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.62
- CADD 20.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available