C9Y (p.Cys9Tyr) variant of IL1R1 (Interleukin-1 receptor type 1)
C9Y (p.Cys9Tyr) 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 0.27 / 1. The record also includes population frequency data and structural context.
C9Y (p.Cys9Tyr) variant details
- p.Cys9Tyr
- ExAC rs771763567
- TOPMed rs771763567
- gnomAD rs771763567
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.16
- CADD 24.00
- PolyPhen-2 0.49
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available