A13E (p.Ala13Glu) variant of C2CD2L (O14523)
A13E (p.Ala13Glu) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- gnomAD 11-119107779-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 22.50
- PolyPhen-2 0.51
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available