W29C (p.Trp29Cys) variant of C2CD2L (O14523)
W29C (p.Trp29Cys) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
W29C (p.Trp29Cys) variant details
- p.Trp29Cys
- gnomAD 11-119107828-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.88
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available