Y51H (p.Tyr51His) variant of IL23R (Interleukin-23 receptor)
Y51H (p.Tyr51His) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y51H (p.Tyr51His) variant details
- p.Tyr51His
- TOPMed rs1011510628
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.63
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available