L23M (p.Leu23Met) variant of C2CD2L (O14523)
L23M (p.Leu23Met) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L23M (p.Leu23Met) variant details
- p.Leu23Met
- gnomAD 11-119107808-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available