L30M (p.Leu30Met) variant of C2CD2L (O14523)
L30M (p.Leu30Met) 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.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- gnomAD 11-119107829-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.05
- ESM-1b 0.73
- AlphaMissense 0.20
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available