L61P (p.Leu61Pro) variant of TSC1 (Hamartin)
L61P (p.Leu61Pro) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L61P (p.Leu61Pro) variant details
- p.Leu61Pro
- rs118203345
- ClinGen CA005453
- cosmic curated COSV53766
- ClinVar RCV000042091
- Pathogenic
- not provided; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (not provided; Tuberous sclerosis 1)
- EBI: Pathogenic (in TSC1)
- UniProt: Pathogenic (in TSC1)
- Structural context available
- 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)