N14D (p.Asn14Asp) variant of PTPN4 (P29074)
N14D (p.Asn14Asp) in PTPN4 (P29074) is a missense change. Clinical records from ClinVar 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 0.42 / 1. The record also includes population frequency data and structural context.
N14D (p.Asn14Asp) variant details
- p.Asn14Asp
- ExAC rs775350769
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.37
- MetaSVM -0.53
- CADD 24.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available