T25M (p.Thr25Met) variant of C2CD2L (O14523)
T25M (p.Thr25Met) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T25M (p.Thr25Met) variant details
- p.Thr25Met
- gnomAD 11-119107815-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 25.10
- PolyPhen-2 0.88
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available