L18P (p.Leu18Pro) variant of IL1RN (P18510)
L18P (p.Leu18Pro) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 2-113127677-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.34
- CADD 17.00
- PolyPhen-2 0.87
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available