H40D (p.His40Asp) variant of IL18R1 (Interleukin-18 receptor 1)
H40D (p.His40Asp) in IL18R1 (Interleukin-18 receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H40D (p.His40Asp) variant details
- p.His40Asp
- gnomAD 2-102367884-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.05
- MetaLR 0.00
- MetaSVM -0.90
- CADD 4.75
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available