P39L (p.Pro39Leu) variant of TSC1 (Hamartin)
P39L (p.Pro39Leu) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- rs770831962
- ClinGen CA375375221
- ClinVar RCV002770406
- ExAC rs770831962
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.28
- MetaLR 0.79
- MetaSVM 0.71
- PolyPhen-2 0.58
- SIFT 0.01
- EVE 0.49
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Likely benign
- UniProt: Likely benign
- 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)