T25A (p.Thr25Ala) variant of C2CD2L (O14523)
T25A (p.Thr25Ala) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T25A (p.Thr25Ala) variant details
- p.Thr25Ala
- gnomAD 11-119107814-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 23.90
- PolyPhen-2 0.47
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available