N44D (p.Asn44Asp) variant of PTPN2 (P17706)
N44D (p.Asn44Asp) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N44D (p.Asn44Asp) variant details
- p.Asn44Asp
- ExAC rs763765476
- gnomAD rs763765476
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.33
- CADD 23.90
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available