D9Y (p.Asp9Tyr) variant of C2CD2L (O14523)
D9Y (p.Asp9Tyr) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- gnomAD 11-119107766-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.23
- ESM-1b 0.67
- AlphaMissense 0.22
- CADD 28.50
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available