V7I (p.Val7Ile) variant of TSC1 (Hamartin)
V7I (p.Val7Ile) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- rs2539146331
- ClinGen CA375375436
- ClinVar RCV003615306
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.15
- CADD 3.13
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)