V1531L (p.Val1531Leu) variant of TSC2 (Tuberin)
V1531L (p.Val1531Leu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V1531L (p.Val1531Leu) variant details
- p.Val1531Leu
- rs762797016
- ClinGen CA394304492
- cosmic curated COSV10957
- ClinVar RCV002299719
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.66
- CADD 25.80
- PolyPhen-2 0.68
- SIFT 0.11
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)