T53N (p.Thr53Asn) variant of IL18R1 (Interleukin-18 receptor 1)
T53N (p.Thr53Asn) in IL18R1 (Interleukin-18 receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T53N (p.Thr53Asn) variant details
- p.Thr53Asn
- gnomAD 2-102367924-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.06
- CADD 11.30
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available