L34E (p.Leu34Glu) variant of PCCA (P05165)
L34E (p.Leu34Glu) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L34E (p.Leu34Glu) variant details
- p.Leu34Glu
- gnomAD 13-100089219-CCT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available