P27A (p.Pro27Ala) variant of IL1RN (P18510)
P27A (p.Pro27Ala) in IL1RN (P18510) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- ExAC rs747206860
- TOPMed rs747206860
- gnomAD rs747206860
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.97
- CADD 9.17
- PolyPhen-2 0.09
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available