Q24del (p.Gln24del) variant of PCCA (P05165)
Q24del (p.Gln24del) in PCCA (P05165) is a missense 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.
Q24del (p.Gln24del) variant details
- gnomAD 13-100089185-CGCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available