A2G (p.Ala2Gly) variant of PCCA (P05165)
A2G (p.Ala2Gly) 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.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 13-100089124-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available