K42Q (p.Lys42Gln) variant of IFNAR2 (Interferon alpha/beta receptor 2)
K42Q (p.Lys42Gln) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K42Q (p.Lys42Gln) variant details
- p.Lys42Gln
- gnomAD 21-33241920-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 16.40
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available