R19G (p.Arg19Gly) variant of PCCA (P05165)
R19G (p.Arg19Gly) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- gnomAD 13-100089171-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 22.10
- Population evidence available
- Structural context available
- Literature evidence available