L16M (p.Leu16Met) variant of C2CD2L (O14523)
L16M (p.Leu16Met) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD 11-119107787-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 24.40
- PolyPhen-2 0.83
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available