L16P (p.Leu16Pro) variant of C2CD2L (O14523)
L16P (p.Leu16Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 11-119107788-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.56
- CADD 28.00
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available