L24H (p.Leu24His) variant of C2CD2L (O14523)
L24H (p.Leu24His) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L24H (p.Leu24His) variant details
- p.Leu24His
- gnomAD 11-119107812-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 28.40
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available