S28C (p.Ser28Cys) variant of IL1RN (P18510)
S28C (p.Ser28Cys) 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 0.06 / 1. The record also includes population frequency data and structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- ESP rs147288195
- ExAC rs147288195
- TOPMed rs147288195
- gnomAD rs147288195
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0605
- REVEL 0.01
- MetaLR 0.07
- MetaSVM -1.05
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available