E32D (p.Glu32Asp) variant of TSC2 (Tuberin)
E32D (p.Glu32Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- Ensembl rs1567380772
- cosmic curated COSV54594
- Uncertain significance
- Tuberous sclerosis syndrome; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.22
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.23
- ClinVar: Uncertain significance (Tuberous sclerosis syndrome; Tuberous sclerosis 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available