V26M (p.Val26Met) variant of C2CD2L (O14523)
V26M (p.Val26Met) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V26M (p.Val26Met) variant details
- p.Val26Met
- gnomAD 11-119107817-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.21
- ESM-1b 0.21
- AlphaMissense 0.76
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available