V3E (p.Val3Glu) variant of IL1R1 (Interleukin-1 receptor type 1)
V3E (p.Val3Glu) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V3E (p.Val3Glu) variant details
- p.Val3Glu
- ExAC rs779905023
- TOPMed rs779905023
- gnomAD rs779905023
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.20
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available