M44T (p.Met44Thr) variant of IL23R (Interleukin-23 receptor)
M44T (p.Met44Thr) 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 0.65 / 1. The record also includes population frequency data and structural context.
M44T (p.Met44Thr) variant details
- p.Met44Thr
- ESP rs144606217
- ExAC rs144606217
- TOPMed rs144606217
- gnomAD rs144606217
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.74
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available