V58I (p.Val58Ile) variant of PTPN4 (P29074)
V58I (p.Val58Ile) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V58I (p.Val58Ile) variant details
- p.Val58Ile
- rs754446836
- ClinGen CA1849206
- ClinVar RCV004445102
- ExAC rs754446836
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.52
- ESM-1b 0.85
- AlphaMissense 0.12
- MetaLR 0.64
- MetaSVM 0.28
- CADD 26.90
- 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
- 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)