L39M (p.Leu39Met) variant of C2CD2L (O14523)
L39M (p.Leu39Met) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L39M (p.Leu39Met) variant details
- p.Leu39Met
- gnomAD 11-119107856-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.03
- ESM-1b 0.70
- AlphaMissense 0.13
- CADD 21.00
- PolyPhen-2 0.16
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available