L25M (p.Leu25Met) variant of PCCA (P05165)
L25M (p.Leu25Met) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L25M (p.Leu25Met) variant details
- p.Leu25Met
- gnomAD 13-100089193-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.50
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available