N111K (p.Asn111Lys) variant of TYK2 (P29597)
N111K (p.Asn111Lys) 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 0.55 / 1. The record also includes population frequency data and structural context.
N111K (p.Asn111Lys) variant details
- p.Asn111Lys
- rs2041753647
- ClinGen CA404019221
- ClinVar RCV001209836
- Ensembl rs2041753647
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.59
- CADD 23.80
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available