W7R (p.Trp7Arg) variant of IL12RB1 (P42701)
W7R (p.Trp7Arg) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
W7R (p.Trp7Arg) variant details
- p.Trp7Arg
- rs775656716
- ClinGen CA404791388
- cosmic curated COSV59096
- ClinVar RCV001320526
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0892
- CADD 4.36
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)