A57V (p.Ala57Val) variant of TSC1 (Hamartin)
A57V (p.Ala57Val) 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 syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- rs1846920951
- ClinGen CA375375104
- ClinVar RCV004017050
- Ensembl rs1846920951
- Uncertain significance
- Tuberous sclerosis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.25
- CADD 9.98
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (Tuberous sclerosis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)