Q23S (p.Gln23Ser) variant of PCCA (P05165)
Q23S (p.Gln23Ser) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q23S (p.Gln23Ser) variant details
- p.Gln23Ser
- gnomAD 13-100089185-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available