R54Q (p.Arg54Gln) variant of IL12RB1 (P42701)
R54Q (p.Arg54Gln) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs377441024
- ClinGen CA9305314
- ClinVar RCV001123349
- 1000Genomes rs377441024
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 26.50
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)