F15V (p.Phe15Val) variant of IL12RB1 (P42701)
F15V (p.Phe15Val) 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.
F15V (p.Phe15Val) variant details
- p.Phe15Val
- rs1429095330
- ClinGen CA404791244
- ClinVar RCV001207387
- gnomAD rs1429095330
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance