A12V (p.Ala12Val) variant of TSC1 (Hamartin)
A12V (p.Ala12Val) 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 0.39 / 1. The record also includes published literature and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1588363595
- ClinGen CA375375400
- NCI-TCGA Cosmic COSV5377
- cosmic curated COSV53772
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.58
- PolyPhen-2 0.00
- SIFT 0.40
- EVE 0.33
- 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)