G20V (p.Gly20Val) variant of TSC2 (Tuberin)
G20V (p.Gly20Val) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- rs2150971313
- ClinGen CA394301139
- ClinVar RCV001947221
- ClinVar RCV006251060
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.24
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.00
- 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)