D42E (p.Asp42Glu) variant of IL1RN (P18510)
D42E (p.Asp42Glu) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- ExAC rs766285518
- gnomAD rs766285518
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.27
- MetaLR 0.13
- MetaSVM -0.74
- CADD 23.10
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available