G51T (p.Gly51Thr) variant of PTPN4 (P29074)
G51T (p.Gly51Thr) in PTPN4 (P29074) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G51T (p.Gly51Thr) variant details
- p.Gly51Thr
- rs751852893
- NCI-TCGA TCGA novel
- ClinGen CA1849176
- ClinVar RCV002713594
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- MetaLR 0.22
- MetaSVM -0.74
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)