D2Y (p.Asp2Tyr) variant of C2CD2L (O14523)
D2Y (p.Asp2Tyr) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- gnomAD 11-119107745-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.10
- ESM-1b 0.76
- AlphaMissense 0.16
- CADD 27.20
- PolyPhen-2 0.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available