K63E (p.Lys63Glu) variant of IL23R (Interleukin-23 receptor)
K63E (p.Lys63Glu) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K63E (p.Lys63Glu) variant details
- p.Lys63Glu
- rs1469323792
- ClinGen CA340732353
- ClinVar RCV003846645
- ClinVar RCV005587530
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.16
- CADD 14.10
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available