P47S (p.Pro47Ser) variant of IL12RB1 (P42701)
P47S (p.Pro47Ser) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.65 / 1. The record also includes population frequency data and published literature.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- rs17887176
- ClinGen CA9305321
- ClinVar RCV000548053
- ClinVar RCV004717231
- Benign
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Benign (in dbSNP:rs17887176)
- UniProt: Benign (in dbSNP:rs17887176)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Literature evidence available