I71V (p.Ile71Val) variant of IL23R (Interleukin-23 receptor)
I71V (p.Ile71Val) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- 1000Genomes rs576532413
- ExAC rs576532413
- TOPMed rs576532413
- gnomAD rs576532413
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0793
- REVEL 0.09
- CADD 0.46
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available