T39A (p.Thr39Ala) variant of PTPN4 (P29074)
T39A (p.Thr39Ala) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T39A (p.Thr39Ala) variant details
- p.Thr39Ala
- rs368669233
- ClinGen CA1849179
- ClinVar RCV002648438
- ESP rs368669233
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.38
- MetaSVM -0.45
- CADD 23.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)