L18I (p.Leu18Ile) variant of C2CD2L (O14523)
L18I (p.Leu18Ile) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- gnomAD 11-119107793-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.09
- ESM-1b 0.23
- AlphaMissense 0.23
- CADD 23.40
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available