P26Q (p.Pro26Gln) variant of TSC2 (Tuberin)
P26Q (p.Pro26Gln) 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 0.31 / 1. The record also includes population frequency data and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- Ensembl rs1555494636
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 3.92
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available