L27M (p.Leu27Met) variant of PCCA (P05165)
L27M (p.Leu27Met) in PCCA (P05165) is a missense 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.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- gnomAD 13-100089199-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available