W12C (p.Trp12Cys) variant of C2CD2L (O14523)
W12C (p.Trp12Cys) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
W12C (p.Trp12Cys) variant details
- p.Trp12Cys
- gnomAD 11-119107777-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available