A28D (p.Ala28Asp) variant of C2CD2L (O14523)
A28D (p.Ala28Asp) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 11-119107824-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 21.00
- PolyPhen-2 0.06
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available