N52K (p.Asn52Lys) variant of IL1RN (P18510)
N52K (p.Asn52Lys) in IL1RN (P18510) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N52K (p.Asn52Lys) variant details
- p.Asn52Lys
- TOPMed rs1022748861
- gnomAD rs1022748861
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.01
- CADD 21.70
- PolyPhen-2 0.58
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available