N32I (p.Asn32Ile) variant of PTPN4 (P29074)
N32I (p.Asn32Ile) 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 and structural context.
N32I (p.Asn32Ile) variant details
- p.Asn32Ile
- ExAC rs751852893
- gnomAD rs751852893
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.22
- MetaSVM -0.74
- CADD 23.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available