S78C (p.Ser78Cys) variant of PTPN4 (P29074)
S78C (p.Ser78Cys) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S78C (p.Ser78Cys) variant details
- p.Ser78Cys
- 1000Genomes rs145726868
- ExAC rs145726868
- TOPMed rs145726868
- gnomAD rs145726868
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.31
- ESM-1b 0.23
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.35
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available