D42A (p.Asp42Ala) variant of IL1RN (P18510)
D42A (p.Asp42Ala) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D42A (p.Asp42Ala) variant details
- p.Asp42Ala
- TOPMed rs1336529271
- gnomAD rs1336529271
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.39
- MetaLR 0.15
- MetaSVM -0.84
- CADD 27.90
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available