T79A (p.Thr79Ala) variant of PTPN4 (P29074)
T79A (p.Thr79Ala) 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 0.18 / 1. The record also includes population frequency data and structural context.
T79A (p.Thr79Ala) variant details
- p.Thr79Ala
- rs773010444
- NCI-TCGA Cosmic COSV5530
- ExAC rs773010444
- TOPMed rs773010444
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.17
- MetaSVM -1.02
- CADD 17.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available