S74R (p.Ser74Arg) variant of IL12RB1 (P42701)
S74R (p.Ser74Arg) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.43 / 1. The record also includes population frequency data.
S74R (p.Ser74Arg) variant details
- p.Ser74Arg
- rs11575925
- ClinGen CA9305301
- cosmic curated COSV10522
- ClinVar RCV000487869
- Likely benign
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 21.10
- PolyPhen-2 0.46
- SIFT 0.16
- ClinVar: Likely benign (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)