W5C (p.Trp5Cys) variant of C2CD2L (O14523)
W5C (p.Trp5Cys) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
W5C (p.Trp5Cys) variant details
- p.Trp5Cys
- TOPMed rs1193633951
- gnomAD rs1193633951
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.46
- CADD 25.70
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available