Q24* (p.Gln24Ter) variant of PCCA (P05165)
Q24* (p.Gln24Ter) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- gnomAD 13-100089190-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available