G300V (p.Gly300Val) variant of TSC2 (Tuberin)
G300V (p.Gly300Val) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G300V (p.Gly300Val) variant details
- p.Gly300Val
- cosmic curated COSV10605
- gnomAD rs1313152125
- Likely pathogenic
- Tuberous sclerosis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.69
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Tuberous sclerosis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available