N88D (p.Asn88Asp) variant of TYK2 (P29597)
N88D (p.Asn88Asp) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
N88D (p.Asn88Asp) variant details
- p.Asn88Asp
- rs752013617
- ClinGen CA9193800
- ClinVar RCV002643305
- ExAC rs752013617
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.45
- CADD 25.80
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available