K28Q (p.Lys28Gln) variant of IFNAR1 (Interferon alpha/beta receptor 1)
K28Q (p.Lys28Gln) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
K28Q (p.Lys28Gln) variant details
- p.Lys28Gln
- gnomAD 21-33335529-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.17
- MetaLR 0.29
- MetaSVM -0.77
- CADD 12.10
- PolyPhen-2 0.54
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available