S78F (p.Ser78Phe) variant of PTPN4 (P29074)
S78F (p.Ser78Phe) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S78F (p.Ser78Phe) variant details
- p.Ser78Phe
- 1000Genomes rs145726868
- ExAC rs145726868
- TOPMed rs145726868
- gnomAD rs145726868
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.41
- ESM-1b 0.67
- AlphaMissense 0.12
- MetaLR 0.44
- MetaSVM -0.12
- CADD 24.50
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available