D36A (p.Asp36Ala) variant of TSC1 (Hamartin)
D36A (p.Asp36Ala) 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 0.62 / 1. The record also includes published literature and structural context.
D36A (p.Asp36Ala) variant details
- p.Asp36Ala
- rs148468036
- ClinGen CA375375240
- ClinVar RCV003505837
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.28
- MetaLR 0.75
- MetaSVM 0.59
- PolyPhen-2 0.04
- SIFT 0.03
- MutPred 0.64
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)