L18P (p.Leu18Pro) variant of C2CD2L (O14523)
L18P (p.Leu18Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 11-119107794-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.25
- ESM-1b 0.31
- AlphaMissense 0.74
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available