P27L (p.Pro27Leu) variant of IL1RN (P18510)
P27L (p.Pro27Leu) 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 0.39 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- ExAC rs777003410
- gnomAD rs777003410
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.18
- MetaLR 0.25
- MetaSVM -0.80
- CADD 22.50
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available