Q367P (p.Gln367Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
Q367P (p.Gln367Pro) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CBL-related disorder; Noonan syndrome and Noonan-related syndrome; Inborn geneti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
Q367P (p.Gln367Pro) variant details
- p.Gln367Pro
- rs267606704
- ClinGen CA123484
- cosmic curated COSV50632
- ClinVar RCV000033352
- Pathogenic/Likely pathogenic
- CBL-related disorder; Noonan syndrome and Noonan-related syndrome; Inborn geneti
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (CBL-related disorder; Noonan syndrome and Noonan-related syndrom)
- EBI: Pathogenic (in NSLL)
- UniProt: Pathogenic (in NSLL)
- Structural context available
- Cited in: Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. (PMID 20619386)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)