N58K (p.Asn58Lys) variant of IFNAR2 (Interferon alpha/beta receptor 2)
N58K (p.Asn58Lys) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N58K (p.Asn58Lys) variant details
- p.Asn58Lys
- gnomAD 21-33245020-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 24.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available