P1675R (p.Pro1675Arg) variant of TSC2 (Tuberin)
P1675R (p.Pro1675Arg) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
P1675R (p.Pro1675Arg) variant details
- p.Pro1675Arg
- rs45483392
- ClinGen CA394311261
- cosmic curated COSV51912
- ClinVar RCV002267440
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Tuberous)
- EBI: Pathogenic (in TSC2)
- UniProt: Pathogenic (in TSC2)
- Structural context available
- TSC2 functional assay using prime editing in HAP1s: score -0.268
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)