T39S (p.Thr39Ser) variant of PTPN4 (P29074)
T39S (p.Thr39Ser) in PTPN4 (P29074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T39S (p.Thr39Ser) variant details
- p.Thr39Ser
- TOPMed rs1247625783
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.26
- MetaSVM -0.77
- CADD 19.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available