A37D (p.Ala37Asp) variant of IL1RN (P18510)
A37D (p.Ala37Asp) in IL1RN (P18510) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A37D (p.Ala37Asp) variant details
- p.Ala37Asp
- ExAC rs775132427
- gnomAD rs775132427
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.04
- CADD 19.20
- PolyPhen-2 0.24
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available