A42D (p.Ala42Asp) variant of PTPN4 (P29074)
A42D (p.Ala42Asp) 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 0.39 / 1. The record also includes population frequency data and structural context.
A42D (p.Ala42Asp) variant details
- p.Ala42Asp
- gnomAD rs1207670265
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.33
- ESM-1b 0.04
- AlphaMissense 0.22
- MetaLR 0.24
- MetaSVM -0.76
- CADD 22.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available