N46I (p.Asn46Ile) variant of PTPN4 (P29074)
N46I (p.Asn46Ile) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
N46I (p.Asn46Ile) variant details
- p.Asn46Ile
- gnomAD 2-119809990-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.44
- MetaSVM -0.28
- CADD 21.40
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available