V709A (p.Val709Ala) variant of TSC2 (Tuberin)
V709A (p.Val709Ala) 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 syndrome; Tuberous sclerosis 2; Hereditary cancer-predisposin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V709A (p.Val709Ala) variant details
- p.Val709Ala
- rs1326276839
- ClinGen CA394274804
- ClinVar RCV001214475
- ClinVar RCV004950353
- Uncertain significance
- Tuberous sclerosis syndrome; Tuberous sclerosis 2; Hereditary cancer-predisposin
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.87
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Tuberous sclerosis syndrome; Tuberous sclerosis 2; Hereditary ca)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)