L72P (p.Leu72Pro) variant of TSC1 (Hamartin)
L72P (p.Leu72Pro) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L72P (p.Leu72Pro) variant details
- p.Leu72Pro
- rs118203354
- ClinGen CA006084
- NCI-TCGA Cosmic COSV5377
- ClinVar RCV000042163
- Likely pathogenic
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Tuberous sclerosis 1)
- EBI: Pathogenic (in TSC1)
- UniProt: Pathogenic (in TSC1)
- Structural context available
- Cited in: Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations. (PMID 10533069)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)