S23* (p.Ser23Ter) variant of UBQLN2 (Ubiquilin-2)
S23* (p.Ser23Ter) in UBQLN2 (Ubiquilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- gnomAD X-56563941-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available