N46N (p.Asn46Asn) variant of PTPN4 (P29074)
N46N (p.Asn46Asn) in PTPN4 (P29074) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N46N (p.Asn46Asn) variant details
- p.Asn46Asn
- rs144382245
- gnomAD 2-119809991-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 13.80
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Literature evidence available