G22R (p.Gly22Arg) variant of TSC2 (Tuberin)
G22R (p.Gly22Arg) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs1479698846
- gnomAD rs1479698846
- ClinGen CA394301149
- cosmic curated COSV54592
- Benign
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.16
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Benign (Tuberous sclerosis 2)
- EBI: Benign
- UniProt: Benign
- 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)