S23* (p.Ser23Ter) variant of SETD5 (Q9C0A6)
S23* (p.Ser23Ter) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- gnomAD 3-9429006-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available